Canonical Allele Identifier: CA405426006
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732736G>A , CM000681.2:g.35732736G>A GRCh38
NC_000019.9:g.36223637G>A , CM000681.1:g.36223637G>A GRCh37
NC_000019.8:g.40915477G>A NCBI36
NG_052906.1:g.19718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.493G>A
ENST00000673918.2:c.6121G>A ENSP00000501283.1:p.Gly2041Ser
ENST00000674114.2:c.3728G>A ENSP00000501039.2:n.3728G>A
ENST00000684977.1:c.1405G>A ENSP00000509384.1:p.Gly469Ser
ENST00000689544.1:n.1340G>A
ENST00000691421.1:c.1408G>A ENSP00000508674.1:p.Gly470Ser
ENST00000691855.1:c.5729G>A
ENST00000692961.1:c.6187G>A ENSP00000509289.1:p.Gly2063Ser
ENST00000693677.1:c.704+407G>A ENSP00000509779.1:n.704+407G>A
ENST00000420124.4:c.6187G>A MANE Select ENSP00000398837.2:p.Gly2063Ser
ENST00000673918.1:c.6121G>A ENSP00000501283.1:p.Gly2041Ser
ENST00000674114.1:c.3509G>A
ENST00000420124.2:c.6187G>A ENSP00000398837.1:p.Gly2063Ser
NM_014727.2:c.6187G>A NP_055542.1:p.Gly2063Ser
XM_011527561.1:c.6121G>A XP_011525863.1:p.Gly2041Ser
XM_011527562.1:c.6187G>A XP_011525864.1:p.Gly2063Ser
XM_011527563.1:c.5911G>A XP_011525865.1:p.Gly1971Ser
XM_011527561.2:c.5623G>A XP_011525863.2:p.Gly1875Ser
XM_011527562.2:c.6187G>A XP_011525864.1:p.Gly2063Ser
XM_017027544.1:c.6187G>A XP_016883033.1:p.Gly2063Ser
XM_017027545.1:c.5623G>A XP_016883034.1:p.Gly1875Ser
XM_017027546.1:c.3151G>A XP_016883035.1:p.Gly1051Ser
NM_014727.3:c.6187G>A MANE Select NP_055542.1:p.Gly2063Ser