Canonical Allele Identifier: CA405425681

Gene: KMT2B

Linked Data

• dbSNP Id: rs758388100
• gnomAD v2: 19-36223548-G-T
• gnomAD v4: 19-35732647-G-T
• MyVariant Identifiers: chr19:g.36223548G>T (hg19) ; chr19:g.35732647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732647G>T , CM000681.2:g.35732647G>T	GRCh38
NC_000019.9:g.36223548G>T , CM000681.1:g.36223548G>T	GRCh37
NC_000019.8:g.40915388G>T	NCBI36
NG_052906.1:g.19629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.404G>T
ENST00000673918.2:c.6032G>T	ENSP00000501283.1:p.Arg2011Leu
ENST00000674114.2:c.3639G>T	ENSP00000501039.2:n.3639G>T
ENST00000684977.1:c.1316G>T	ENSP00000509384.1:p.Arg439Leu
ENST00000689544.1:n.1251G>T
ENST00000691421.1:c.1319G>T	ENSP00000508674.1:p.Arg440Leu
ENST00000691855.1:c.5640G>T
ENST00000692961.1:c.6098G>T	ENSP00000509289.1:p.Arg2033Leu
ENST00000693677.1:c.704+318G>T	ENSP00000509779.1:n.704+318G>T
ENST00000420124.4:c.6098G>T MANE Select	ENSP00000398837.2:p.Arg2033Leu
ENST00000673918.1:c.6032G>T	ENSP00000501283.1:p.Arg2011Leu
ENST00000674114.1:c.3420G>T
ENST00000420124.2:c.6098G>T	ENSP00000398837.1:p.Arg2033Leu
NM_014727.2:c.6098G>T	NP_055542.1:p.Arg2033Leu
XM_011527561.1:c.6032G>T	XP_011525863.1:p.Arg2011Leu
XM_011527562.1:c.6098G>T	XP_011525864.1:p.Arg2033Leu
XM_011527563.1:c.5822G>T	XP_011525865.1:p.Arg1941Leu
XM_011527561.2:c.5534G>T	XP_011525863.2:p.Arg1845Leu
XM_011527562.2:c.6098G>T	XP_011525864.1:p.Arg2033Leu
XM_017027544.1:c.6098G>T	XP_016883033.1:p.Arg2033Leu
XM_017027545.1:c.5534G>T	XP_016883034.1:p.Arg1845Leu
XM_017027546.1:c.3062G>T	XP_016883035.1:p.Arg1021Leu
NM_014727.3:c.6098G>T MANE Select	NP_055542.1:p.Arg2033Leu