Canonical Allele Identifier: CA382814608
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 435661
ClinVar RCV Id: RCV000501129
dbSNP Id: rs1555047266

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118504435T>C , CM000673.2:g.118504435T>C GRCh38
NC_000011.9:g.118375150T>C , CM000673.1:g.118375150T>C GRCh37
NC_000011.8:g.117880360T>C NCBI36
NG_027813.1:g.72946T>C , LRG_613:g.72946T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.8642T>C ENSP00000432391.3:p.Leu2881Pro
ENST00000710560.1:c.8633T>C ENSP00000518343.1:p.Leu2878Pro
ENST00000649878.2:c.2582T>C ENSP00000497891.2:p.Leu861Pro
ENST00000685397.1:c.2582T>C ENSP00000509586.1:p.Leu861Pro
ENST00000686370.1:c.2582T>C ENSP00000509179.1:p.Leu861Pro
ENST00000689424.1:c.2840T>C ENSP00000509852.1:p.Leu947Pro
ENST00000691053.1:c.8615T>C ENSP00000509168.1:p.Leu2872Pro
ENST00000389506.10:c.8534T>C ENSP00000374157.5:p.Leu2845Pro
ENST00000528278.2:n.7885T>C
ENST00000534358.8:c.8543T>C MANE Select ENSP00000436786.2:p.Leu2848Pro
ENST00000649699.1:c.8420T>C ENSP00000496927.1:p.Leu2807Pro
ENST00000389506.9:c.8534T>C ENSP00000374157.5:p.Leu2845Pro
ENST00000534358.5:c.8543T>C ENSP00000436786.1:p.Leu2848Pro
NM_001197104.1:c.8543T>C , LRG_613t1:c.8543T>C NP_001184033.1:p.Leu2848Pro
NM_005933.3:c.8534T>C NP_005924.2:p.Leu2845Pro
XM_006718839.2:c.6026T>C XP_006718902.2:p.Leu2009Pro
XM_011542829.1:c.8642T>C XP_011541131.1:p.Leu2881Pro
XM_011542830.1:c.8639T>C XP_011541132.1:p.Leu2880Pro
XM_011542831.1:c.8633T>C XP_011541133.1:p.Leu2878Pro
XM_011542832.1:c.6449T>C XP_011541134.1:p.Leu2150Pro
XM_011542833.1:c.6125T>C XP_011541135.1:p.Leu2042Pro
XM_006718839.3:c.6026T>C XP_006718902.2:p.Leu2009Pro
XM_011542829.2:c.8642T>C XP_011541131.1:p.Leu2881Pro
XM_011542830.2:c.8639T>C XP_011541132.1:p.Leu2880Pro
XM_011542831.2:c.8633T>C XP_011541133.1:p.Leu2878Pro
XM_011542833.2:c.6125T>C XP_011541135.1:p.Leu2042Pro
NM_001197104.2:c.8543T>C MANE Select NP_001184033.1:p.Leu2848Pro
NM_005933.4:c.8534T>C NP_005924.2:p.Leu2845Pro