Canonical Allele Identifier: CA405428281

Gene: KMT2B

Linked Data

• dbSNP Id: rs1380205922
• gnomAD v2: 19-36223850-G-C
• gnomAD v4: 19-35732949-G-C
• MyVariant Identifiers: chr19:g.36223850G>C (hg19) ; chr19:g.35732949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732949G>C , CM000681.2:g.35732949G>C	GRCh38
NC_000019.9:g.36223850G>C , CM000681.1:g.36223850G>C	GRCh37
NC_000019.8:g.40915690G>C	NCBI36
NG_052906.1:g.19931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.706G>C
ENST00000673918.2:c.6334G>C	ENSP00000501283.1:p.Glu2112Gln
ENST00000674114.2:c.3941G>C	ENSP00000501039.2:n.3941G>C
ENST00000684977.1:c.1618G>C	ENSP00000509384.1:p.Glu540Gln
ENST00000689544.1:n.1553G>C
ENST00000691421.1:c.1621G>C	ENSP00000508674.1:p.Glu541Gln
ENST00000691855.1:c.5942G>C
ENST00000692961.1:c.6400G>C	ENSP00000509289.1:p.Glu2134Gln
ENST00000693677.1:c.704+620G>C	ENSP00000509779.1:n.704+620G>C
ENST00000420124.4:c.6400G>C MANE Select	ENSP00000398837.2:p.Glu2134Gln
ENST00000673918.1:c.6334G>C	ENSP00000501283.1:p.Glu2112Gln
ENST00000674114.1:c.3722G>C
ENST00000420124.2:c.6400G>C	ENSP00000398837.1:p.Glu2134Gln
NM_014727.2:c.6400G>C	NP_055542.1:p.Glu2134Gln
XM_011527561.1:c.6334G>C	XP_011525863.1:p.Glu2112Gln
XM_011527562.1:c.6400G>C	XP_011525864.1:p.Glu2134Gln
XM_011527563.1:c.6124G>C	XP_011525865.1:p.Glu2042Gln
XM_011527561.2:c.5836G>C	XP_011525863.2:p.Glu1946Gln
XM_011527562.2:c.6400G>C	XP_011525864.1:p.Glu2134Gln
XM_017027544.1:c.6400G>C	XP_016883033.1:p.Glu2134Gln
XM_017027545.1:c.5836G>C	XP_016883034.1:p.Glu1946Gln
XM_017027546.1:c.3364G>C	XP_016883035.1:p.Glu1122Gln
NM_014727.3:c.6400G>C MANE Select	NP_055542.1:p.Glu2134Gln