Canonical Allele Identifier: CA382802352
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502489T>G , CM000673.2:g.118502489T>G GRCh38
NC_000011.9:g.118373204T>G , CM000673.1:g.118373204T>G GRCh37
NC_000011.8:g.117878414T>G NCBI36
NG_027813.1:g.71000T>G , LRG_613:g.71000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.6696T>G ENSP00000432391.3:p.Ser2232Arg
ENST00000710560.1:c.6687T>G ENSP00000518343.1:p.Ser2229Arg
ENST00000649878.2:c.636T>G ENSP00000497891.2:p.Ser212Arg
ENST00000685397.1:c.636T>G ENSP00000509586.1:p.Ser212Arg
ENST00000686370.1:c.636T>G ENSP00000509179.1:p.Ser212Arg
ENST00000689424.1:c.894T>G ENSP00000509852.1:p.Ser298Arg
ENST00000691053.1:c.6669T>G ENSP00000509168.1:p.Ser2223Arg
ENST00000389506.10:c.6588T>G ENSP00000374157.5:p.Ser2196Arg
ENST00000528278.2:n.5939T>G
ENST00000534358.8:c.6597T>G MANE Select ENSP00000436786.2:p.Ser2199Arg
ENST00000649699.1:c.6474T>G ENSP00000496927.1:p.Ser2158Arg
ENST00000389506.9:c.6588T>G ENSP00000374157.5:p.Ser2196Arg
ENST00000528278.1:n.724T>G
ENST00000534358.5:c.6597T>G ENSP00000436786.1:p.Ser2199Arg
NM_001197104.1:c.6597T>G , LRG_613t1:c.6597T>G NP_001184033.1:p.Ser2199Arg
NM_005933.3:c.6588T>G NP_005924.2:p.Ser2196Arg
XM_006718839.2:c.4080T>G XP_006718902.2:p.Ser1360Arg
XM_011542829.1:c.6696T>G XP_011541131.1:p.Ser2232Arg
XM_011542830.1:c.6693T>G XP_011541132.1:p.Ser2231Arg
XM_011542831.1:c.6687T>G XP_011541133.1:p.Ser2229Arg
XM_011542832.1:c.4503T>G XP_011541134.1:p.Ser1501Arg
XM_011542833.1:c.4179T>G XP_011541135.1:p.Ser1393Arg
XM_006718839.3:c.4080T>G XP_006718902.2:p.Ser1360Arg
XM_011542829.2:c.6696T>G XP_011541131.1:p.Ser2232Arg
XM_011542830.2:c.6693T>G XP_011541132.1:p.Ser2231Arg
XM_011542831.2:c.6687T>G XP_011541133.1:p.Ser2229Arg
XM_011542833.2:c.4179T>G XP_011541135.1:p.Ser1393Arg
NM_001197104.2:c.6597T>G MANE Select NP_001184033.1:p.Ser2199Arg
NM_005933.4:c.6588T>G NP_005924.2:p.Ser2196Arg