Canonical Allele Identifier: CA382834256
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491204T>G , CM000673.2:g.118491204T>G GRCh38
NC_000011.9:g.118361919T>G , CM000673.1:g.118361919T>G GRCh37
NC_000011.8:g.117867129T>G NCBI36
NG_027813.1:g.59715T>G , LRG_613:g.59715T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4804T>G ENSP00000432391.3:p.Cys1602Gly
ENST00000710560.1:c.4804T>G ENSP00000518343.1:p.Cys1602Gly
ENST00000685498.1:c.481T>G ENSP00000509293.1:p.Cys161Gly
ENST00000691053.1:c.4705T>G ENSP00000509168.1:p.Cys1569Gly
ENST00000389506.10:c.4705T>G ENSP00000374157.5:p.Cys1569Gly
ENST00000534358.8:c.4705T>G MANE Select ENSP00000436786.2:p.Cys1569Gly
ENST00000649699.1:c.4591T>G ENSP00000496927.1:p.Cys1531Gly
ENST00000389506.9:c.4705T>G ENSP00000374157.5:p.Cys1569Gly
ENST00000392873.3:c.841T>G ENSP00000376612.3:p.Cys281Gly
ENST00000534358.5:c.4705T>G ENSP00000436786.1:p.Cys1569Gly
NM_001197104.1:c.4705T>G , LRG_613t1:c.4705T>G NP_001184033.1:p.Cys1569Gly
NM_005933.3:c.4705T>G NP_005924.2:p.Cys1569Gly
XM_006718839.2:c.2188T>G XP_006718902.2:p.Cys730Gly
XM_011542829.1:c.4804T>G XP_011541131.1:p.Cys1602Gly
XM_011542830.1:c.4801T>G XP_011541132.1:p.Cys1601Gly
XM_011542831.1:c.4804T>G XP_011541133.1:p.Cys1602Gly
XM_011542832.1:c.2611T>G XP_011541134.1:p.Cys871Gly
XM_011542833.1:c.2287T>G XP_011541135.1:p.Cys763Gly
XM_006718839.3:c.2188T>G XP_006718902.2:p.Cys730Gly
XM_011542829.2:c.4804T>G XP_011541131.1:p.Cys1602Gly
XM_011542830.2:c.4801T>G XP_011541132.1:p.Cys1601Gly
XM_011542831.2:c.4804T>G XP_011541133.1:p.Cys1602Gly
XM_011542833.2:c.2287T>G XP_011541135.1:p.Cys763Gly
NM_001197104.2:c.4705T>G MANE Select NP_001184033.1:p.Cys1569Gly
NM_005933.4:c.4705T>G NP_005924.2:p.Cys1569Gly