Canonical Allele Identifier: CA405419179
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730074G>C , CM000681.2:g.35730074G>C GRCh38
NC_000019.9:g.36220975G>C , CM000681.1:g.36220975G>C GRCh37
NC_000019.8:g.40912815G>C NCBI36
NG_052906.1:g.17056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4959G>C ENSP00000501283.1:p.Gln1653His
ENST00000674114.2:c.2566G>C ENSP00000501039.2:n.2566G>C
ENST00000684977.1:c.243G>C ENSP00000509384.1:p.Gln81His
ENST00000685168.1:c.451G>C
ENST00000689544.1:n.178G>C
ENST00000691421.1:c.246G>C ENSP00000508674.1:p.Gln82His
ENST00000691855.1:c.4567G>C
ENST00000692961.1:c.5025G>C ENSP00000509289.1:p.Gln1675His
ENST00000420124.4:c.5025G>C MANE Select ENSP00000398837.2:p.Gln1675His
ENST00000673918.1:c.4959G>C ENSP00000501283.1:p.Gln1653His
ENST00000674114.1:c.2347G>C
ENST00000420124.2:c.5025G>C ENSP00000398837.1:p.Gln1675His
NM_014727.2:c.5025G>C NP_055542.1:p.Gln1675His
XM_011527561.1:c.4959G>C XP_011525863.1:p.Gln1653His
XM_011527562.1:c.5025G>C XP_011525864.1:p.Gln1675His
XM_011527563.1:c.4749G>C XP_011525865.1:p.Gln1583His
XM_011527561.2:c.4461G>C XP_011525863.2:p.Gln1487His
XM_011527562.2:c.5025G>C XP_011525864.1:p.Gln1675His
XM_017027544.1:c.5025G>C XP_016883033.1:p.Gln1675His
XM_017027545.1:c.4461G>C XP_016883034.1:p.Gln1487His
XM_017027546.1:c.1989G>C XP_016883035.1:p.Gln663His
NM_014727.3:c.5025G>C MANE Select NP_055542.1:p.Gln1675His