Canonical Allele Identifier: CA405418019

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729226C>T , CM000681.2:g.35729226C>T	GRCh38
NC_000019.9:g.36220127C>T , CM000681.1:g.36220127C>T	GRCh37
NC_000019.8:g.40911967C>T	NCBI36
NG_052906.1:g.16208C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.4847C>T MANE Select	NP_055542.1:p.Ala1616Val
ENST00000420124.4:c.4847C>T MANE Select	ENSP00000398837.2:p.Ala1616Val
NM_014727.2:c.4847C>T	NP_055542.1:p.Ala1616Val
ENST00000420124.2:c.4847C>T	ENSP00000398837.1:p.Ala1616Val
ENST00000673918.1:c.4781C>T	ENSP00000501283.1:p.Ala1594Val
ENST00000673918.2:c.4781C>T	ENSP00000501283.1:p.Ala1594Val
ENST00000674114.1:c.2169C>T
ENST00000674114.2:c.2388C>T	ENSP00000501039.2:n.2388C>T
ENST00000684977.1:c.65C>T	ENSP00000509384.1:p.Ala22Val
ENST00000685168.1:c.273C>T
ENST00000691421.1:c.68C>T	ENSP00000508674.1:p.Ala23Val
ENST00000691855.1:c.4389C>T
ENST00000692961.1:c.4847C>T	ENSP00000509289.1:p.Ala1616Val
XM_011527561.1:c.4781C>T	XP_011525863.1:p.Ala1594Val
XM_011527561.2:c.4283C>T	XP_011525863.2:p.Ala1428Val
XM_011527562.1:c.4847C>T	XP_011525864.1:p.Ala1616Val
XM_011527562.2:c.4847C>T	XP_011525864.1:p.Ala1616Val
XM_011527563.1:c.4571C>T	XP_011525865.1:p.Ala1524Val
XM_017027544.1:c.4847C>T	XP_016883033.1:p.Ala1616Val
XM_017027545.1:c.4283C>T	XP_016883034.1:p.Ala1428Val
XM_017027546.1:c.1811C>T	XP_016883035.1:p.Ala604Val