Canonical Allele Identifier: CA382818536
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 426740
ClinVar RCV Id: RCV000489180
dbSNP Id: rs1085307772

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118505025C>T , CM000673.2:g.118505025C>T GRCh38
NC_000011.9:g.118375740C>T , CM000673.1:g.118375740C>T GRCh37
NC_000011.8:g.117880950C>T NCBI36
NG_027813.1:g.73536C>T , LRG_613:g.73536C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.9232C>T ENSP00000432391.3:p.Gln3078Ter
ENST00000710560.1:c.9223C>T ENSP00000518343.1:p.Gln3075Ter
ENST00000649878.2:c.3172C>T ENSP00000497891.2:p.Gln1058Ter
ENST00000685397.1:c.3172C>T ENSP00000509586.1:p.Gln1058Ter
ENST00000686370.1:c.3172C>T ENSP00000509179.1:p.Gln1058Ter
ENST00000689424.1:c.3430C>T ENSP00000509852.1:p.Gln1144Ter
ENST00000691053.1:c.9205C>T ENSP00000509168.1:p.Gln3069Ter
ENST00000389506.10:c.9124C>T ENSP00000374157.5:p.Gln3042Ter
ENST00000528278.2:n.8475C>T
ENST00000534358.8:c.9133C>T MANE Select ENSP00000436786.2:p.Gln3045Ter
ENST00000649699.1:c.9010C>T ENSP00000496927.1:p.Gln3004Ter
ENST00000389506.9:c.9124C>T ENSP00000374157.5:p.Gln3042Ter
ENST00000534358.5:c.9133C>T ENSP00000436786.1:p.Gln3045Ter
NM_001197104.1:c.9133C>T , LRG_613t1:c.9133C>T NP_001184033.1:p.Gln3045Ter
NM_005933.3:c.9124C>T NP_005924.2:p.Gln3042Ter
XM_006718839.2:c.6616C>T XP_006718902.2:p.Gln2206Ter
XM_011542829.1:c.9232C>T XP_011541131.1:p.Gln3078Ter
XM_011542830.1:c.9229C>T XP_011541132.1:p.Gln3077Ter
XM_011542831.1:c.9223C>T XP_011541133.1:p.Gln3075Ter
XM_011542832.1:c.7039C>T XP_011541134.1:p.Gln2347Ter
XM_011542833.1:c.6715C>T XP_011541135.1:p.Gln2239Ter
XM_006718839.3:c.6616C>T XP_006718902.2:p.Gln2206Ter
XM_011542829.2:c.9232C>T XP_011541131.1:p.Gln3078Ter
XM_011542830.2:c.9229C>T XP_011541132.1:p.Gln3077Ter
XM_011542831.2:c.9223C>T XP_011541133.1:p.Gln3075Ter
XM_011542833.2:c.6715C>T XP_011541135.1:p.Gln2239Ter
NM_001197104.2:c.9133C>T MANE Select NP_001184033.1:p.Gln3045Ter
NM_005933.4:c.9124C>T NP_005924.2:p.Gln3042Ter