Canonical Allele Identifier: CA405419850

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730444G>T , CM000681.2:g.35730444G>T	GRCh38
NC_000019.9:g.36221345G>T , CM000681.1:g.36221345G>T	GRCh37
NC_000019.8:g.40913185G>T	NCBI36
NG_052906.1:g.17426G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5179G>T MANE Select	NP_055542.1:p.Ala1727Ser
ENST00000420124.4:c.5179G>T MANE Select	ENSP00000398837.2:p.Ala1727Ser
NM_014727.2:c.5179G>T	NP_055542.1:p.Ala1727Ser
ENST00000420124.2:c.5179G>T	ENSP00000398837.1:p.Ala1727Ser
ENST00000673918.1:c.5113G>T	ENSP00000501283.1:p.Ala1705Ser
ENST00000673918.2:c.5113G>T	ENSP00000501283.1:p.Ala1705Ser
ENST00000674114.1:c.2501G>T
ENST00000674114.2:c.2720G>T	ENSP00000501039.2:n.2720G>T
ENST00000684977.1:c.397G>T	ENSP00000509384.1:p.Ala133Ser
ENST00000685168.1:c.605G>T
ENST00000689544.1:n.332G>T
ENST00000691421.1:c.400G>T	ENSP00000508674.1:p.Ala134Ser
ENST00000691855.1:c.4721G>T
ENST00000692961.1:c.5179G>T	ENSP00000509289.1:p.Ala1727Ser
ENST00000693677.1:c.103G>T	ENSP00000509779.1:p.Ala35Ser
XM_011527561.1:c.5113G>T	XP_011525863.1:p.Ala1705Ser
XM_011527561.2:c.4615G>T	XP_011525863.2:p.Ala1539Ser
XM_011527562.1:c.5179G>T	XP_011525864.1:p.Ala1727Ser
XM_011527562.2:c.5179G>T	XP_011525864.1:p.Ala1727Ser
XM_011527563.1:c.4903G>T	XP_011525865.1:p.Ala1635Ser
XM_017027544.1:c.5179G>T	XP_016883033.1:p.Ala1727Ser
XM_017027545.1:c.4615G>T	XP_016883034.1:p.Ala1539Ser
XM_017027546.1:c.2143G>T	XP_016883035.1:p.Ala715Ser