Canonical Allele Identifier: CA405435839

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35736914G>T , CM000681.2:g.35736914G>T	GRCh38
NC_000019.9:g.36227815G>T , CM000681.1:g.36227815G>T	GRCh37
NC_000019.8:g.40919655G>T	NCBI36
NG_052906.1:g.23896G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7300G>T MANE Select	NP_055542.1:p.Ala2434Ser
ENST00000420124.4:c.7300G>T MANE Select	ENSP00000398837.2:p.Ala2434Ser
NM_014727.2:c.7300G>T	NP_055542.1:p.Ala2434Ser
ENST00000420124.2:c.7300G>T	ENSP00000398837.1:p.Ala2434Ser
ENST00000585476.5:n.1695G>T
ENST00000592092.1:n.680G>T
ENST00000592092.2:n.1770G>T
ENST00000673918.1:c.7234G>T	ENSP00000501283.1:p.Ala2412Ser
ENST00000673918.2:c.7234G>T	ENSP00000501283.1:p.Ala2412Ser
ENST00000674101.1:c.141G>T
ENST00000674114.1:c.4622G>T
ENST00000674114.2:c.4841G>T	ENSP00000501039.2:n.4841G>T
ENST00000689544.1:n.2541G>T
ENST00000689929.1:c.212G>T
ENST00000691855.1:c.6842G>T
ENST00000692961.1:c.7224G>T	ENSP00000509289.1:p.Gly2408=
ENST00000693161.1:c.141G>T
ENST00000693175.1:c.349G>T
ENST00000693677.1:c.1045G>T	ENSP00000509779.1:p.Ala349Ser
XM_011527561.1:c.7234G>T	XP_011525863.1:p.Ala2412Ser
XM_011527561.2:c.6736G>T	XP_011525863.2:p.Ala2246Ser
XM_011527562.1:c.7300G>T	XP_011525864.1:p.Ala2434Ser
XM_011527562.2:c.7300G>T	XP_011525864.1:p.Ala2434Ser
XM_011527563.1:c.7024G>T	XP_011525865.1:p.Ala2342Ser
XM_017027544.1:c.7210G>T	XP_016883033.1:p.Ala2404Ser
XM_017027545.1:c.6736G>T	XP_016883034.1:p.Ala2246Ser
XM_017027546.1:c.4264G>T	XP_016883035.1:p.Ala1422Ser