Canonical Allele Identifier: CA2333793080

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729993C= , CM000681.2:g.35729993C=	GRCh38
NC_000019.9:g.36220894C= , CM000681.1:g.36220894C=	GRCh37
NC_000019.8:g.40912734C=	NCBI36
NG_052906.1:g.16975C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4878C=	ENSP00000501283.1:p.Gly1626=
ENST00000674114.2:c.2485C=	ENSP00000501039.2:n.2485C=
ENST00000684977.1:c.162C=	ENSP00000509384.1:p.Gly54=
ENST00000685168.1:c.370C=
ENST00000689544.1:n.97C=
ENST00000691421.1:c.165C=	ENSP00000508674.1:p.Gly55=
ENST00000691855.1:c.4486C=
ENST00000692961.1:c.4944C=	ENSP00000509289.1:p.Gly1648=
ENST00000420124.4:c.4944C= MANE Select	ENSP00000398837.2:p.Gly1648=
ENST00000673918.1:c.4878C=	ENSP00000501283.1:p.Gly1626=
ENST00000674114.1:c.2266C=
ENST00000420124.2:c.4944C=	ENSP00000398837.1:p.Gly1648=
NM_014727.2:c.4944C=	NP_055542.1:p.Gly1648=
XM_011527561.1:c.4878C=	XP_011525863.1:p.Gly1626=
XM_011527562.1:c.4944C=	XP_011525864.1:p.Gly1648=
XM_011527563.1:c.4668C=	XP_011525865.1:p.Gly1556=
XM_011527561.2:c.4380C=	XP_011525863.2:p.Gly1460=
XM_011527562.2:c.4944C=	XP_011525864.1:p.Gly1648=
XM_017027544.1:c.4944C=	XP_016883033.1:p.Gly1648=
XM_017027545.1:c.4380C=	XP_016883034.1:p.Gly1460=
XM_017027546.1:c.1908C=	XP_016883035.1:p.Gly636=
NM_014727.3:c.4944C= MANE Select	NP_055542.1:p.Gly1648=