Canonical Allele Identifier: CA477093467
Gene: KMT2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118373204T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.6696T>C ENSP00000432391.3:p.Ser2232=
ENST00000710560.1:c.6687T>C ENSP00000518343.1:p.Ser2229=
ENST00000649878.2:c.636T>C ENSP00000497891.2:p.Ser212=
ENST00000685397.1:c.636T>C ENSP00000509586.1:p.Ser212=
ENST00000686370.1:c.636T>C ENSP00000509179.1:p.Ser212=
ENST00000689424.1:c.894T>C ENSP00000509852.1:p.Ser298=
ENST00000691053.1:c.6669T>C ENSP00000509168.1:p.Ser2223=
ENST00000389506.10:c.6588T>C ENSP00000374157.5:p.Ser2196=
ENST00000528278.2:n.5939T>C
ENST00000534358.8:c.6597T>C MANE Select ENSP00000436786.2:p.Ser2199=
ENST00000649699.1:c.6474T>C ENSP00000496927.1:p.Ser2158=
ENST00000389506.9:c.6588T>C ENSP00000374157.5:p.Ser2196=
ENST00000528278.1:n.724T>C
ENST00000534358.5:c.6597T>C ENSP00000436786.1:p.Ser2199=
NM_001197104.1:c.6597T>C , LRG_613t1:c.6597T>C NP_001184033.1:p.Ser2199=
NM_005933.3:c.6588T>C NP_005924.2:p.Ser2196=
XM_006718839.2:c.4080T>C XP_006718902.2:p.Ser1360=
XM_011542829.1:c.6696T>C XP_011541131.1:p.Ser2232=
XM_011542830.1:c.6693T>C XP_011541132.1:p.Ser2231=
XM_011542831.1:c.6687T>C XP_011541133.1:p.Ser2229=
XM_011542832.1:c.4503T>C XP_011541134.1:p.Ser1501=
XM_011542833.1:c.4179T>C XP_011541135.1:p.Ser1393=
XM_006718839.3:c.4080T>C XP_006718902.2:p.Ser1360=
XM_011542829.2:c.6696T>C XP_011541131.1:p.Ser2232=
XM_011542830.2:c.6693T>C XP_011541132.1:p.Ser2231=
XM_011542831.2:c.6687T>C XP_011541133.1:p.Ser2229=
XM_011542833.2:c.4179T>C XP_011541135.1:p.Ser1393=
NM_001197104.2:c.6597T>C MANE Select NP_001184033.1:p.Ser2199=
NM_005933.4:c.6588T>C NP_005924.2:p.Ser2196=