Canonical Allele Identifier: CA382806390
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1555046731

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503554G>C , CM000673.2:g.118503554G>C GRCh38
NC_000011.9:g.118374269G>C , CM000673.1:g.118374269G>C GRCh37
NC_000011.8:g.117879479G>C NCBI36
NG_027813.1:g.72065G>C , LRG_613:g.72065G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7761G>C ENSP00000432391.3:p.Glu2587Asp
ENST00000710560.1:c.7752G>C ENSP00000518343.1:p.Glu2584Asp
ENST00000649878.2:c.1701G>C ENSP00000497891.2:p.Glu567Asp
ENST00000685397.1:c.1701G>C ENSP00000509586.1:p.Glu567Asp
ENST00000686370.1:c.1701G>C ENSP00000509179.1:p.Glu567Asp
ENST00000689424.1:c.1959G>C ENSP00000509852.1:p.Glu653Asp
ENST00000691053.1:c.7734G>C ENSP00000509168.1:p.Glu2578Asp
ENST00000389506.10:c.7653G>C ENSP00000374157.5:p.Glu2551Asp
ENST00000528278.2:n.7004G>C
ENST00000534358.8:c.7662G>C MANE Select ENSP00000436786.2:p.Glu2554Asp
ENST00000649699.1:c.7539G>C ENSP00000496927.1:p.Glu2513Asp
ENST00000389506.9:c.7653G>C ENSP00000374157.5:p.Glu2551Asp
ENST00000528278.1:n.1789G>C
ENST00000534358.5:c.7662G>C ENSP00000436786.1:p.Glu2554Asp
NM_001197104.1:c.7662G>C , LRG_613t1:c.7662G>C NP_001184033.1:p.Glu2554Asp
NM_005933.3:c.7653G>C NP_005924.2:p.Glu2551Asp
XM_006718839.2:c.5145G>C XP_006718902.2:p.Glu1715Asp
XM_011542829.1:c.7761G>C XP_011541131.1:p.Glu2587Asp
XM_011542830.1:c.7758G>C XP_011541132.1:p.Glu2586Asp
XM_011542831.1:c.7752G>C XP_011541133.1:p.Glu2584Asp
XM_011542832.1:c.5568G>C XP_011541134.1:p.Glu1856Asp
XM_011542833.1:c.5244G>C XP_011541135.1:p.Glu1748Asp
XM_006718839.3:c.5145G>C XP_006718902.2:p.Glu1715Asp
XM_011542829.2:c.7761G>C XP_011541131.1:p.Glu2587Asp
XM_011542830.2:c.7758G>C XP_011541132.1:p.Glu2586Asp
XM_011542831.2:c.7752G>C XP_011541133.1:p.Glu2584Asp
XM_011542833.2:c.5244G>C XP_011541135.1:p.Glu1748Asp
NM_001197104.2:c.7662G>C MANE Select NP_001184033.1:p.Glu2554Asp
NM_005933.4:c.7653G>C NP_005924.2:p.Glu2551Asp