Canonical Allele Identifier: CA382805136
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1312808428

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503221G>T , CM000673.2:g.118503221G>T GRCh38
NC_000011.9:g.118373936G>T , CM000673.1:g.118373936G>T GRCh37
NC_000011.8:g.117879146G>T NCBI36
NG_027813.1:g.71732G>T , LRG_613:g.71732G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7428G>T ENSP00000432391.3:p.Lys2476Asn
ENST00000710560.1:c.7419G>T ENSP00000518343.1:p.Lys2473Asn
ENST00000649878.2:c.1368G>T ENSP00000497891.2:p.Lys456Asn
ENST00000685397.1:c.1368G>T ENSP00000509586.1:p.Lys456Asn
ENST00000686370.1:c.1368G>T ENSP00000509179.1:p.Lys456Asn
ENST00000689424.1:c.1626G>T ENSP00000509852.1:p.Lys542Asn
ENST00000691053.1:c.7401G>T ENSP00000509168.1:p.Lys2467Asn
ENST00000389506.10:c.7320G>T ENSP00000374157.5:p.Lys2440Asn
ENST00000528278.2:n.6671G>T
ENST00000534358.8:c.7329G>T MANE Select ENSP00000436786.2:p.Lys2443Asn
ENST00000649699.1:c.7206G>T ENSP00000496927.1:p.Lys2402Asn
ENST00000389506.9:c.7320G>T ENSP00000374157.5:p.Lys2440Asn
ENST00000528278.1:n.1456G>T
ENST00000534358.5:c.7329G>T ENSP00000436786.1:p.Lys2443Asn
NM_001197104.1:c.7329G>T , LRG_613t1:c.7329G>T NP_001184033.1:p.Lys2443Asn
NM_005933.3:c.7320G>T NP_005924.2:p.Lys2440Asn
XM_006718839.2:c.4812G>T XP_006718902.2:p.Lys1604Asn
XM_011542829.1:c.7428G>T XP_011541131.1:p.Lys2476Asn
XM_011542830.1:c.7425G>T XP_011541132.1:p.Lys2475Asn
XM_011542831.1:c.7419G>T XP_011541133.1:p.Lys2473Asn
XM_011542832.1:c.5235G>T XP_011541134.1:p.Lys1745Asn
XM_011542833.1:c.4911G>T XP_011541135.1:p.Lys1637Asn
XM_006718839.3:c.4812G>T XP_006718902.2:p.Lys1604Asn
XM_011542829.2:c.7428G>T XP_011541131.1:p.Lys2476Asn
XM_011542830.2:c.7425G>T XP_011541132.1:p.Lys2475Asn
XM_011542831.2:c.7419G>T XP_011541133.1:p.Lys2473Asn
XM_011542833.2:c.4911G>T XP_011541135.1:p.Lys1637Asn
NM_001197104.2:c.7329G>T MANE Select NP_001184033.1:p.Lys2443Asn
NM_005933.4:c.7320G>T NP_005924.2:p.Lys2440Asn