Canonical Allele Identifier: CA405427423

Gene: KMT2B

Linked Data

• dbSNP Id: rs1337468414
• gnomAD v2: 19-36223718-G-C
• gnomAD v4: 19-35732817-G-C
• MyVariant Identifiers: chr19:g.36223718G>C (hg19) ; chr19:g.35732817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732817G>C , CM000681.2:g.35732817G>C	GRCh38
NC_000019.9:g.36223718G>C , CM000681.1:g.36223718G>C	GRCh37
NC_000019.8:g.40915558G>C	NCBI36
NG_052906.1:g.19799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.574G>C
ENST00000673918.2:c.6202G>C	ENSP00000501283.1:p.Val2068Leu
ENST00000674114.2:c.3809G>C	ENSP00000501039.2:n.3809G>C
ENST00000684977.1:c.1486G>C	ENSP00000509384.1:p.Val496Leu
ENST00000689544.1:n.1421G>C
ENST00000691421.1:c.1489G>C	ENSP00000508674.1:p.Val497Leu
ENST00000691855.1:c.5810G>C
ENST00000692961.1:c.6268G>C	ENSP00000509289.1:p.Val2090Leu
ENST00000693677.1:c.704+488G>C	ENSP00000509779.1:n.704+488G>C
ENST00000420124.4:c.6268G>C MANE Select	ENSP00000398837.2:p.Val2090Leu
ENST00000673918.1:c.6202G>C	ENSP00000501283.1:p.Val2068Leu
ENST00000674114.1:c.3590G>C
ENST00000420124.2:c.6268G>C	ENSP00000398837.1:p.Val2090Leu
NM_014727.2:c.6268G>C	NP_055542.1:p.Val2090Leu
XM_011527561.1:c.6202G>C	XP_011525863.1:p.Val2068Leu
XM_011527562.1:c.6268G>C	XP_011525864.1:p.Val2090Leu
XM_011527563.1:c.5992G>C	XP_011525865.1:p.Val1998Leu
XM_011527561.2:c.5704G>C	XP_011525863.2:p.Val1902Leu
XM_011527562.2:c.6268G>C	XP_011525864.1:p.Val2090Leu
XM_017027544.1:c.6268G>C	XP_016883033.1:p.Val2090Leu
XM_017027545.1:c.5704G>C	XP_016883034.1:p.Val1902Leu
XM_017027546.1:c.3232G>C	XP_016883035.1:p.Val1078Leu
NM_014727.3:c.6268G>C MANE Select	NP_055542.1:p.Val2090Leu