Canonical Allele Identifier: CA405427575

Gene: KMT2B

Linked Data

• dbSNP Id: rs751646243
• gnomAD v2: 19-36223742-G-C
• gnomAD v4: 19-35732841-G-C
• MyVariant Identifiers: chr19:g.36223742G>C (hg19) ; chr19:g.35732841G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732841G>C , CM000681.2:g.35732841G>C	GRCh38
NC_000019.9:g.36223742G>C , CM000681.1:g.36223742G>C	GRCh37
NC_000019.8:g.40915582G>C	NCBI36
NG_052906.1:g.19823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.598G>C
ENST00000673918.2:c.6226G>C	ENSP00000501283.1:p.Ala2076Pro
ENST00000674114.2:c.3833G>C	ENSP00000501039.2:n.3833G>C
ENST00000684977.1:c.1510G>C	ENSP00000509384.1:p.Ala504Pro
ENST00000689544.1:n.1445G>C
ENST00000691421.1:c.1513G>C	ENSP00000508674.1:p.Ala505Pro
ENST00000691855.1:c.5834G>C
ENST00000692961.1:c.6292G>C	ENSP00000509289.1:p.Ala2098Pro
ENST00000693677.1:c.704+512G>C	ENSP00000509779.1:n.704+512G>C
ENST00000420124.4:c.6292G>C MANE Select	ENSP00000398837.2:p.Ala2098Pro
ENST00000673918.1:c.6226G>C	ENSP00000501283.1:p.Ala2076Pro
ENST00000674114.1:c.3614G>C
ENST00000420124.2:c.6292G>C	ENSP00000398837.1:p.Ala2098Pro
NM_014727.2:c.6292G>C	NP_055542.1:p.Ala2098Pro
XM_011527561.1:c.6226G>C	XP_011525863.1:p.Ala2076Pro
XM_011527562.1:c.6292G>C	XP_011525864.1:p.Ala2098Pro
XM_011527563.1:c.6016G>C	XP_011525865.1:p.Ala2006Pro
XM_011527561.2:c.5728G>C	XP_011525863.2:p.Ala1910Pro
XM_011527562.2:c.6292G>C	XP_011525864.1:p.Ala2098Pro
XM_017027544.1:c.6292G>C	XP_016883033.1:p.Ala2098Pro
XM_017027545.1:c.5728G>C	XP_016883034.1:p.Ala1910Pro
XM_017027546.1:c.3256G>C	XP_016883035.1:p.Ala1086Pro
NM_014727.3:c.6292G>C MANE Select	NP_055542.1:p.Ala2098Pro