Canonical Allele Identifier: CA405431528

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224675A>C (hg19) ; chr19:g.35733774A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733774A>C , CM000681.2:g.35733774A>C	GRCh38
NC_000019.9:g.36224675A>C , CM000681.1:g.36224675A>C	GRCh37
NC_000019.8:g.40916515A>C	NCBI36
NG_052906.1:g.20756A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1531A>C
ENST00000673918.2:c.6995A>C	ENSP00000501283.1:p.Glu2332Ala
ENST00000674114.2:c.4602A>C	ENSP00000501039.2:n.4602A>C
ENST00000684977.1:c.2256A>C	ENSP00000509384.1:n.2256A>C
ENST00000689544.1:n.2302A>C
ENST00000689929.1:c.12A>C
ENST00000691421.1:c.2192A>C	ENSP00000508674.1:p.Glu731Ala
ENST00000691855.1:c.6603A>C
ENST00000692961.1:c.6985A>C	ENSP00000509289.1:p.Asn2329His
ENST00000693175.1:c.12A>C
ENST00000693677.1:c.806A>C	ENSP00000509779.1:p.Glu269Ala
ENST00000420124.4:c.7061A>C MANE Select	ENSP00000398837.2:p.Glu2354Ala
ENST00000673918.1:c.6995A>C	ENSP00000501283.1:p.Glu2332Ala
ENST00000674114.1:c.4383A>C
ENST00000420124.2:c.7061A>C	ENSP00000398837.1:p.Glu2354Ala
ENST00000592092.1:n.441A>C
NM_014727.2:c.7061A>C	NP_055542.1:p.Glu2354Ala
XM_011527561.1:c.6995A>C	XP_011525863.1:p.Glu2332Ala
XM_011527562.1:c.7061A>C	XP_011525864.1:p.Glu2354Ala
XM_011527563.1:c.6785A>C	XP_011525865.1:p.Glu2262Ala
XM_011527561.2:c.6497A>C	XP_011525863.2:p.Glu2166Ala
XM_011527562.2:c.7061A>C	XP_011525864.1:p.Glu2354Ala
XM_017027544.1:c.6971A>C	XP_016883033.1:p.Glu2324Ala
XM_017027545.1:c.6497A>C	XP_016883034.1:p.Glu2166Ala
XM_017027546.1:c.4025A>C	XP_016883035.1:p.Glu1342Ala
NM_014727.3:c.7061A>C MANE Select	NP_055542.1:p.Glu2354Ala