Canonical Allele Identifier: CA382834487
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491295G>T , CM000673.2:g.118491295G>T GRCh38
NC_000011.9:g.118362010G>T , CM000673.1:g.118362010G>T GRCh37
NC_000011.8:g.117867220G>T NCBI36
NG_027813.1:g.59806G>T , LRG_613:g.59806G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4895G>T ENSP00000432391.3:p.Cys1632Phe
ENST00000710560.1:c.4895G>T ENSP00000518343.1:p.Cys1632Phe
ENST00000685498.1:c.572G>T ENSP00000509293.1:p.Cys191Phe
ENST00000691053.1:c.4796G>T ENSP00000509168.1:p.Cys1599Phe
ENST00000389506.10:c.4796G>T ENSP00000374157.5:p.Cys1599Phe
ENST00000534358.8:c.4796G>T MANE Select ENSP00000436786.2:p.Cys1599Phe
ENST00000649699.1:c.4682G>T ENSP00000496927.1:p.Cys1561Phe
ENST00000389506.9:c.4796G>T ENSP00000374157.5:p.Cys1599Phe
ENST00000392873.3:c.932G>T ENSP00000376612.3:p.Cys311Phe
ENST00000534358.5:c.4796G>T ENSP00000436786.1:p.Cys1599Phe
NM_001197104.1:c.4796G>T , LRG_613t1:c.4796G>T NP_001184033.1:p.Cys1599Phe
NM_005933.3:c.4796G>T NP_005924.2:p.Cys1599Phe
XM_006718839.2:c.2279G>T XP_006718902.2:p.Cys760Phe
XM_011542829.1:c.4895G>T XP_011541131.1:p.Cys1632Phe
XM_011542830.1:c.4892G>T XP_011541132.1:p.Cys1631Phe
XM_011542831.1:c.4895G>T XP_011541133.1:p.Cys1632Phe
XM_011542832.1:c.2702G>T XP_011541134.1:p.Cys901Phe
XM_011542833.1:c.2378G>T XP_011541135.1:p.Cys793Phe
XM_006718839.3:c.2279G>T XP_006718902.2:p.Cys760Phe
XM_011542829.2:c.4895G>T XP_011541131.1:p.Cys1632Phe
XM_011542830.2:c.4892G>T XP_011541132.1:p.Cys1631Phe
XM_011542831.2:c.4895G>T XP_011541133.1:p.Cys1632Phe
XM_011542833.2:c.2378G>T XP_011541135.1:p.Cys793Phe
NM_001197104.2:c.4796G>T MANE Select NP_001184033.1:p.Cys1599Phe
NM_005933.4:c.4796G>T NP_005924.2:p.Cys1599Phe