Canonical Allele Identifier: CA405419357
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730121G>T , CM000681.2:g.35730121G>T GRCh38
NC_000019.9:g.36221022G>T , CM000681.1:g.36221022G>T GRCh37
NC_000019.8:g.40912862G>T NCBI36
NG_052906.1:g.17103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.5006G>T ENSP00000501283.1:p.Gly1669Val
ENST00000674114.2:c.2613G>T ENSP00000501039.2:n.2613G>T
ENST00000684977.1:c.290G>T ENSP00000509384.1:p.Gly97Val
ENST00000685168.1:c.498G>T
ENST00000689544.1:n.225G>T
ENST00000691421.1:c.293G>T ENSP00000508674.1:p.Gly98Val
ENST00000691855.1:c.4614G>T
ENST00000692961.1:c.5072G>T ENSP00000509289.1:p.Gly1691Val
ENST00000420124.4:c.5072G>T MANE Select ENSP00000398837.2:p.Gly1691Val
ENST00000673918.1:c.5006G>T ENSP00000501283.1:p.Gly1669Val
ENST00000674114.1:c.2394G>T
ENST00000420124.2:c.5072G>T ENSP00000398837.1:p.Gly1691Val
NM_014727.2:c.5072G>T NP_055542.1:p.Gly1691Val
XM_011527561.1:c.5006G>T XP_011525863.1:p.Gly1669Val
XM_011527562.1:c.5072G>T XP_011525864.1:p.Gly1691Val
XM_011527563.1:c.4796G>T XP_011525865.1:p.Gly1599Val
XM_011527561.2:c.4508G>T XP_011525863.2:p.Gly1503Val
XM_011527562.2:c.5072G>T XP_011525864.1:p.Gly1691Val
XM_017027544.1:c.5072G>T XP_016883033.1:p.Gly1691Val
XM_017027545.1:c.4508G>T XP_016883034.1:p.Gly1503Val
XM_017027546.1:c.2036G>T XP_016883035.1:p.Gly679Val
NM_014727.3:c.5072G>T MANE Select NP_055542.1:p.Gly1691Val