Canonical Allele Identifier: CA382834243
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134338562

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491199A>T , CM000673.2:g.118491199A>T GRCh38
NC_000011.9:g.118361914A>T , CM000673.1:g.118361914A>T GRCh37
NC_000011.8:g.117867124A>T NCBI36
NG_027813.1:g.59710A>T , LRG_613:g.59710A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4799A>T ENSP00000432391.3:p.Asn1600Ile
ENST00000710560.1:c.4799A>T ENSP00000518343.1:p.Asn1600Ile
ENST00000685498.1:c.476A>T ENSP00000509293.1:p.Asn159Ile
ENST00000691053.1:c.4700A>T ENSP00000509168.1:p.Asn1567Ile
ENST00000389506.10:c.4700A>T ENSP00000374157.5:p.Asn1567Ile
ENST00000534358.8:c.4700A>T MANE Select ENSP00000436786.2:p.Asn1567Ile
ENST00000649699.1:c.4586A>T ENSP00000496927.1:p.Asn1529Ile
ENST00000389506.9:c.4700A>T ENSP00000374157.5:p.Asn1567Ile
ENST00000392873.3:c.836A>T ENSP00000376612.3:p.Asn279Ile
ENST00000534358.5:c.4700A>T ENSP00000436786.1:p.Asn1567Ile
NM_001197104.1:c.4700A>T , LRG_613t1:c.4700A>T NP_001184033.1:p.Asn1567Ile
NM_005933.3:c.4700A>T NP_005924.2:p.Asn1567Ile
XM_006718839.2:c.2183A>T XP_006718902.2:p.Asn728Ile
XM_011542829.1:c.4799A>T XP_011541131.1:p.Asn1600Ile
XM_011542830.1:c.4796A>T XP_011541132.1:p.Asn1599Ile
XM_011542831.1:c.4799A>T XP_011541133.1:p.Asn1600Ile
XM_011542832.1:c.2606A>T XP_011541134.1:p.Asn869Ile
XM_011542833.1:c.2282A>T XP_011541135.1:p.Asn761Ile
XM_006718839.3:c.2183A>T XP_006718902.2:p.Asn728Ile
XM_011542829.2:c.4799A>T XP_011541131.1:p.Asn1600Ile
XM_011542830.2:c.4796A>T XP_011541132.1:p.Asn1599Ile
XM_011542831.2:c.4799A>T XP_011541133.1:p.Asn1600Ile
XM_011542833.2:c.2282A>T XP_011541135.1:p.Asn761Ile
NM_001197104.2:c.4700A>T MANE Select NP_001184033.1:p.Asn1567Ile
NM_005933.4:c.4700A>T NP_005924.2:p.Asn1567Ile