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List of European mitochondrial DNA (mtDNA) haplogroups and subclades with their defining mutations

Human Mitochondrial DNA is composed of 16569 base pairs. Two sections are highly polymorphic (i.e. mutations occur more frequently) and known as hypervariable region (HVR). HVR1 locations are numbered 16001-16568. HVR2 locations are numbered 001-574. These are the ones tested by commercial companies for genealogical purposes. These are non-coding regions, which means that mutations have no known medical consequence. There are, however, diseases associated with mtDNA mutations.

Mutations are compared to the Cambridge Reference Sequence representing haplogroup H2. Mutations indicated in red are those going up the tree from H2 to the origins (H2 > H > HV > pre-HV > R > N > L3 > mitochondrial Eve), and are therefore not actual mutations starting from the mitochondrial Eve.

Note that mutations marked by an * do not always occur in this haplogroup or subclade. These are typically HVR mutations.

Haplogroups
Haplogroup H
Haplogroup pre-HV
Haplogroup HV
Haplogroup I
Haplogroup J
Haplogroup K
Haplogroup N
Haplogroup R
Haplogroup T
Haplogroup U
Haplogroup V
Haplogroup W
Haplogroup X
European mtDNA haplogroup chart

Haplogroup H

  • Defining mutations : 263
  • H1 subclade

  • Defining mutations : 3010, 16304*
  • H2 subclade

  • Defining mutations : 1438, 4769
  • H3 subclade

  • Defining mutations : 6776, 16189*, 16356*
  • H4 subclade

  • Defining mutations : 3992, 4024, 5004, 7581, 9123, 14365, 14582, 15497, 15930, 16129*, 16164
  • H5 subclade

  • Defining mutations : 456, 16221*, 16304
  • H6 subclade

  • Defining mutations : 239, 16362, 16482
  • H7 subclade

  • Defining mutations : 4793
  • H8 subclade

  • Defining mutations : 146, 195, 709, 13101, 16162*, 16288, 16362
  • H9 subclade

  • Defining mutations : 152, 3591, 4310, 9148, 13020, 16168
  • H10 subclade

  • Defining mutations : 4216, 5376, 14470, 14548, 16114

    H11 subclade

  • Defining mutations : 195, 961, 8448, 8895, 13759, 16278, 16311
  • H12 subclade

  • Defining mutations : 195, 3936, 14552, 16287
  • H13 subclade

  • Defining mutations : 2259, 4745, 13680, 14872*
  • H14 subclade

  • Defining mutations : 7645, 10217, 11377
  • H15 subclade

  • Defining mutations : 55, 57, 1117, 3647, 6253, 10993
  • H16 subclade

  • Defining mutations : 10394
  • H21 subclade

  • Defining mutations : 186, 310, 3822, 8994, 16192
  • Haplogroup pre-HV

  • Defining mutations : 263, 2706, 7028, 14766
  • Haplogroup HV

  • Defining mutations : 263, 2706, 7028
  • HV1 subclade

  • Defining mutations : 8014, 15218, 16067
  • Haplogroup I

  • Defining mutations : 199, 204, 250, 263*, 4529, 10034, 10238, 10398, 15043, 15924, 16129, 16391
  • Haplogroup J

  • Defining mutations : 295, 462, 489, 10398, 12612, 13708, 16069
  • J1 subclade

  • Defining mutations : 16261
  • J2 subclade

  • Defining mutations : 150*, 152*, 195*, 3010*, 7476, 15257, 16193
  • Haplogroup K

  • Defining mutations : 146*, 1811, 3480, 9055, 9698, 10550, 11299, 14167*, 14798, 16224, 16311
  • K1 subclade

  • Defining mutations : 523.*, 1189, 10398, 16320*
  • K2 subclade

  • Defining mutations : 9716, 16093*
  • Haplogroup N

  • Defining mutations : 73, 263, 2706, 7028, 11719, 12705, 14766, 16223
  • Haplogroup R

  • Defining mutations : 73, 263, 2706, 7028, 11719, 14766
  • Haplogroup T

  • Defining mutations : 709, 1888, 4917, 8697, 10463, 13368, 14905, 15607, 15928, 16294
  • T1 subclade

  • Defining mutations : 152*, 195*, 16186*, 16189*
  • T2 subclade

  • Defining mutations : 11812, 14233, 16153*, 16296*, 16304*
  • T3 subclade

  • Defining mutations : 16188*, 16257*
  • Haplogroup U

  • Defining mutations : 73, 7028, 11719, 12308, 12372, 14766
  • U1 subclade

  • Defining mutations : 285, -4990, 12879, 13104, 14070, 15148, 15954, 16189*, 16249
  • U2 subclade

  • Defining mutations : 152*, 1811, 15907, 16051, 16129*
  • U3 subclade

  • Defining mutations : 150, 14139, 15454, 16343
  • U4 subclade

  • Defining mutations : 195, 4646, 6047, 11332, 14620, 15693, 16356*
  • U5 subclade

  • Defining mutations : 3197, 9477, 13617, 16192*, 16270
  • U6 subclade

  • Defining mutations : 3348, 16172, 16219*
  • U7 subclade

  • Defining mutations : 980. 5360, 10142, 16318*
  • U8 subclade

  • Defining mutations : 9698
  • U9 subclade

  • Defining mutations : 3531, 3834, 6386, 14094
  • Haplogroup V

  • Defining mutations : 72*, 4580, 15904, 16298*
  • Haplogroup W

  • Defining mutations : 189, 195, 204, 709, 5046, 5460, 7864*, 8251, 8994, 12414*, 16292*
  • Haplogroup X

  • Defining mutations : 153, 195, 6221, 6371, 13966, 14470, 16189, 16278
  • X1 subclade

  • Defining mutations : 146, 3531, 13785, 13879, 14560, 15672
  • X2 subclade

  • Defining mutations : 225, 226, 227, 1719
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