Canonical Allele Identifier: CA382802601
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502557A>C , CM000673.2:g.118502557A>C GRCh38
NC_000011.9:g.118373272A>C , CM000673.1:g.118373272A>C GRCh37
NC_000011.8:g.117878482A>C NCBI36
NG_027813.1:g.71068A>C , LRG_613:g.71068A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6764A>C ENSP00000432391.3:p.Tyr2255Ser
ENST00000710560.1:c.6755A>C ENSP00000518343.1:p.Tyr2252Ser
ENST00000649878.2:c.704A>C ENSP00000497891.2:p.Tyr235Ser
ENST00000685397.1:c.704A>C ENSP00000509586.1:p.Tyr235Ser
ENST00000686370.1:c.704A>C ENSP00000509179.1:p.Tyr235Ser
ENST00000689424.1:c.962A>C ENSP00000509852.1:p.Tyr321Ser
ENST00000691053.1:c.6737A>C ENSP00000509168.1:p.Tyr2246Ser
ENST00000389506.10:c.6656A>C ENSP00000374157.5:p.Tyr2219Ser
ENST00000528278.2:n.6007A>C
ENST00000534358.8:c.6665A>C MANE Select ENSP00000436786.2:p.Tyr2222Ser
ENST00000649699.1:c.6542A>C ENSP00000496927.1:p.Tyr2181Ser
ENST00000389506.9:c.6656A>C ENSP00000374157.5:p.Tyr2219Ser
ENST00000528278.1:n.792A>C
ENST00000534358.5:c.6665A>C ENSP00000436786.1:p.Tyr2222Ser
NM_001197104.1:c.6665A>C , LRG_613t1:c.6665A>C NP_001184033.1:p.Tyr2222Ser
NM_005933.3:c.6656A>C NP_005924.2:p.Tyr2219Ser
XM_006718839.2:c.4148A>C XP_006718902.2:p.Tyr1383Ser
XM_011542829.1:c.6764A>C XP_011541131.1:p.Tyr2255Ser
XM_011542830.1:c.6761A>C XP_011541132.1:p.Tyr2254Ser
XM_011542831.1:c.6755A>C XP_011541133.1:p.Tyr2252Ser
XM_011542832.1:c.4571A>C XP_011541134.1:p.Tyr1524Ser
XM_011542833.1:c.4247A>C XP_011541135.1:p.Tyr1416Ser
XM_006718839.3:c.4148A>C XP_006718902.2:p.Tyr1383Ser
XM_011542829.2:c.6764A>C XP_011541131.1:p.Tyr2255Ser
XM_011542830.2:c.6761A>C XP_011541132.1:p.Tyr2254Ser
XM_011542831.2:c.6755A>C XP_011541133.1:p.Tyr2252Ser
XM_011542833.2:c.4247A>C XP_011541135.1:p.Tyr1416Ser
NM_001197104.2:c.6665A>C MANE Select NP_001184033.1:p.Tyr2222Ser
NM_005933.4:c.6656A>C NP_005924.2:p.Tyr2219Ser