Canonical Allele Identifier: CA405429451

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224047A>C (hg19) ; chr19:g.35733146A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733146A>C , CM000681.2:g.35733146A>C	GRCh38
NC_000019.9:g.36224047A>C , CM000681.1:g.36224047A>C	GRCh37
NC_000019.8:g.40915887A>C	NCBI36
NG_052906.1:g.20128A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.903A>C
ENST00000673918.2:c.6531A>C	ENSP00000501283.1:p.Gln2177His
ENST00000674114.2:c.4138A>C	ENSP00000501039.2:n.4138A>C
ENST00000684977.1:c.1815A>C	ENSP00000509384.1:p.Gln605His
ENST00000689544.1:n.1750A>C
ENST00000691421.1:c.1818A>C	ENSP00000508674.1:p.Gln606His
ENST00000691855.1:c.6139A>C
ENST00000692961.1:c.6597A>C	ENSP00000509289.1:p.Gln2199His
ENST00000693677.1:c.705-451A>C	ENSP00000509779.1:n.705-451A>C
ENST00000420124.4:c.6597A>C MANE Select	ENSP00000398837.2:p.Gln2199His
ENST00000673918.1:c.6531A>C	ENSP00000501283.1:p.Gln2177His
ENST00000674114.1:c.3919A>C
ENST00000420124.2:c.6597A>C	ENSP00000398837.1:p.Gln2199His
NM_014727.2:c.6597A>C	NP_055542.1:p.Gln2199His
XM_011527561.1:c.6531A>C	XP_011525863.1:p.Gln2177His
XM_011527562.1:c.6597A>C	XP_011525864.1:p.Gln2199His
XM_011527563.1:c.6321A>C	XP_011525865.1:p.Gln2107His
XM_011527561.2:c.6033A>C	XP_011525863.2:p.Gln2011His
XM_011527562.2:c.6597A>C	XP_011525864.1:p.Gln2199His
XM_017027544.1:c.6597A>C	XP_016883033.1:p.Gln2199His
XM_017027545.1:c.6033A>C	XP_016883034.1:p.Gln2011His
XM_017027546.1:c.3561A>C	XP_016883035.1:p.Gln1187His
NM_014727.3:c.6597A>C MANE Select	NP_055542.1:p.Gln2199His