Canonical Allele Identifier: CA405424362
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732433G>A , CM000681.2:g.35732433G>A GRCh38
NC_000019.9:g.36223334G>A , CM000681.1:g.36223334G>A GRCh37
NC_000019.8:g.40915174G>A NCBI36
NG_052906.1:g.19415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.190G>A
ENST00000673918.2:c.5818G>A ENSP00000501283.1:p.Gly1940Ser
ENST00000674114.2:c.3425G>A ENSP00000501039.2:n.3425G>A
ENST00000684977.1:c.1102G>A ENSP00000509384.1:p.Gly368Ser
ENST00000689544.1:n.1037G>A
ENST00000691421.1:c.1105G>A ENSP00000508674.1:p.Gly369Ser
ENST00000691855.1:c.5426G>A
ENST00000692961.1:c.5884G>A ENSP00000509289.1:p.Gly1962Ser
ENST00000693677.1:c.704+104G>A ENSP00000509779.1:n.704+104G>A
ENST00000420124.4:c.5884G>A MANE Select ENSP00000398837.2:p.Gly1962Ser
ENST00000673918.1:c.5818G>A ENSP00000501283.1:p.Gly1940Ser
ENST00000674114.1:c.3206G>A
ENST00000420124.2:c.5884G>A ENSP00000398837.1:p.Gly1962Ser
NM_014727.2:c.5884G>A NP_055542.1:p.Gly1962Ser
XM_011527561.1:c.5818G>A XP_011525863.1:p.Gly1940Ser
XM_011527562.1:c.5884G>A XP_011525864.1:p.Gly1962Ser
XM_011527563.1:c.5608G>A XP_011525865.1:p.Gly1870Ser
XM_011527561.2:c.5320G>A XP_011525863.2:p.Gly1774Ser
XM_011527562.2:c.5884G>A XP_011525864.1:p.Gly1962Ser
XM_017027544.1:c.5884G>A XP_016883033.1:p.Gly1962Ser
XM_017027545.1:c.5320G>A XP_016883034.1:p.Gly1774Ser
XM_017027546.1:c.2848G>A XP_016883035.1:p.Gly950Ser
NM_014727.3:c.5884G>A MANE Select NP_055542.1:p.Gly1962Ser