Canonical Allele Identifier: CA16042769
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 372920
dbSNP Id: rs1057518074

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118478096G>A , CM000673.2:g.118478096G>A GRCh38
NC_000011.9:g.118348811G>A , CM000673.1:g.118348811G>A GRCh37
NC_000011.8:g.117854021G>A NCBI36
NG_027813.1:g.46607G>A , LRG_613:g.46607G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.3563G>A ENSP00000432391.3:p.Cys1188Tyr
ENST00000710560.1:c.3563G>A ENSP00000518343.1:p.Cys1188Tyr
ENST00000527869.7:c.1046G>A ENSP00000432652.3:p.Cys349Tyr
ENST00000533790.3:c.947G>A ENSP00000436700.3:p.Cys316Tyr
ENST00000649690.2:c.1271G>A ENSP00000497372.2:p.Cys424Tyr
ENST00000685719.1:c.445G>A
ENST00000691053.1:c.3464G>A ENSP00000509168.1:p.Cys1155Tyr
ENST00000389506.10:c.3464G>A ENSP00000374157.5:p.Cys1155Tyr
ENST00000533790.2:c.716G>A ENSP00000436700.2:p.Cys239Tyr
ENST00000534358.8:c.3464G>A MANE Select ENSP00000436786.2:p.Cys1155Tyr
ENST00000648261.1:c.2234G>A ENSP00000498126.1:p.Cys745Tyr
ENST00000649699.1:c.3464G>A ENSP00000496927.1:p.Cys1155Tyr
ENST00000389506.9:c.3464G>A ENSP00000374157.5:p.Cys1155Tyr
ENST00000531904.6:c.3563G>A ENSP00000432391.2:p.Cys1188Tyr
ENST00000533790.1:c.698G>A ENSP00000436700.1:p.Cys233Tyr
ENST00000534358.5:c.3464G>A ENSP00000436786.1:p.Cys1155Tyr
NM_001197104.1:c.3464G>A , LRG_613t1:c.3464G>A NP_001184033.1:p.Cys1155Tyr
NM_005933.3:c.3464G>A NP_005924.2:p.Cys1155Tyr
XM_006718839.2:c.947G>A XP_006718902.2:p.Cys316Tyr
XM_011542829.1:c.3563G>A XP_011541131.1:p.Cys1188Tyr
XM_011542830.1:c.3563G>A XP_011541132.1:p.Cys1188Tyr
XM_011542831.1:c.3563G>A XP_011541133.1:p.Cys1188Tyr
XM_011542832.1:c.1370G>A XP_011541134.1:p.Cys457Tyr
XM_011542833.1:c.1046G>A XP_011541135.1:p.Cys349Tyr
XM_006718839.3:c.947G>A XP_006718902.2:p.Cys316Tyr
XM_011542829.2:c.3563G>A XP_011541131.1:p.Cys1188Tyr
XM_011542830.2:c.3563G>A XP_011541132.1:p.Cys1188Tyr
XM_011542831.2:c.3563G>A XP_011541133.1:p.Cys1188Tyr
XM_011542833.2:c.1046G>A XP_011541135.1:p.Cys349Tyr
NM_001197104.2:c.3464G>A MANE Select NP_001184033.1:p.Cys1155Tyr
NM_005933.4:c.3464G>A NP_005924.2:p.Cys1155Tyr