Canonical Allele Identifier: CA405390399

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35720697A>C , CM000681.2:g.35720697A>C	GRCh38
NC_000019.9:g.36211599A>C , CM000681.1:g.36211599A>C	GRCh37
NC_000019.8:g.40903439A>C	NCBI36
NG_052906.1:g.7679A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.1350A>C MANE Select	NP_055542.1:p.Gln450His
ENST00000420124.4:c.1350A>C MANE Select	ENSP00000398837.2:p.Gln450His
NM_014727.2:c.1350A>C	NP_055542.1:p.Gln450His
ENST00000420124.2:c.1350A>C	ENSP00000398837.1:p.Gln450His
ENST00000673918.1:c.1284A>C	ENSP00000501283.1:p.Gln428His
ENST00000673918.2:c.1284A>C	ENSP00000501283.1:p.Gln428His
ENST00000687718.1:c.*851A>C	ENSP00000510535.1:n.*851A>C
ENST00000689139.1:c.848A>C
ENST00000691855.1:c.848A>C
ENST00000692961.1:c.1350A>C	ENSP00000509289.1:p.Gln450His
XM_011527561.1:c.1284A>C	XP_011525863.1:p.Gln428His
XM_011527561.2:c.786A>C	XP_011525863.2:p.Gln262His
XM_011527562.1:c.1350A>C	XP_011525864.1:p.Gln450His
XM_011527562.2:c.1350A>C	XP_011525864.1:p.Gln450His
XM_011527563.1:c.1350A>C	XP_011525865.1:p.Gln450His
XM_017027544.1:c.1350A>C	XP_016883033.1:p.Gln450His
XM_017027545.1:c.786A>C	XP_016883034.1:p.Gln262His
XR_935878.1:n.1374A>C
XR_935878.2:n.1551A>C