Canonical Allele Identifier: CA9384085

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35719994C>A , CM000681.2:g.35719994C>A	GRCh38
NC_000019.9:g.36210896C>A , CM000681.1:g.36210896C>A	GRCh37
NC_000019.8:g.40902736C>A	NCBI36
NG_052906.1:g.6976C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.647C>A MANE Select	NP_055542.1:p.Pro216His
ENST00000420124.4:c.647C>A MANE Select	ENSP00000398837.2:p.Pro216His
NM_014727.2:c.647C>A	NP_055542.1:p.Pro216His
ENST00000420124.2:c.647C>A	ENSP00000398837.1:p.Pro216His
ENST00000673918.1:c.581C>A	ENSP00000501283.1:p.Pro194His
ENST00000673918.2:c.581C>A	ENSP00000501283.1:p.Pro194His
ENST00000687718.1:c.*148C>A	ENSP00000510535.1:n.*148C>A
ENST00000689139.1:c.145C>A
ENST00000691855.1:c.145C>A
ENST00000692961.1:c.647C>A	ENSP00000509289.1:p.Pro216His
XM_011527561.1:c.581C>A	XP_011525863.1:p.Pro194His
XM_011527561.2:c.83C>A	XP_011525863.2:p.Pro28His
XM_011527562.1:c.647C>A	XP_011525864.1:p.Pro216His
XM_011527562.2:c.647C>A	XP_011525864.1:p.Pro216His
XM_011527563.1:c.647C>A	XP_011525865.1:p.Pro216His
XM_017027544.1:c.647C>A	XP_016883033.1:p.Pro216His
XM_017027545.1:c.83C>A	XP_016883034.1:p.Pro28His
XR_935878.1:n.671C>A
XR_935878.2:n.848C>A