Canonical Allele Identifier: CA9385649

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1369275
• ClinVar RCV Id: RCV001870546
• dbSNP Id: rs760576944
• ExAC: 19:36223716 G / C
• gnomAD v2: 19-36223716-G-C
• gnomAD v3: 19-35732815-G-C
• gnomAD v4: 19-35732815-G-C
• MyVariant Identifiers: chr19:g.36223716G>C (hg19) ; chr19:g.35732815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732815G>C , CM000681.2:g.35732815G>C	GRCh38
NC_000019.9:g.36223716G>C , CM000681.1:g.36223716G>C	GRCh37
NC_000019.8:g.40915556G>C	NCBI36
NG_052906.1:g.19797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.572G>C
ENST00000673918.2:c.6200G>C	ENSP00000501283.1:p.Gly2067Ala
ENST00000674114.2:c.3807G>C	ENSP00000501039.2:n.3807G>C
ENST00000684977.1:c.1484G>C	ENSP00000509384.1:p.Gly495Ala
ENST00000689544.1:n.1419G>C
ENST00000691421.1:c.1487G>C	ENSP00000508674.1:p.Gly496Ala
ENST00000691855.1:c.5808G>C
ENST00000692961.1:c.6266G>C	ENSP00000509289.1:p.Gly2089Ala
ENST00000693677.1:c.704+486G>C	ENSP00000509779.1:n.704+486G>C
ENST00000420124.4:c.6266G>C MANE Select	ENSP00000398837.2:p.Gly2089Ala
ENST00000673918.1:c.6200G>C	ENSP00000501283.1:p.Gly2067Ala
ENST00000674114.1:c.3588G>C
ENST00000420124.2:c.6266G>C	ENSP00000398837.1:p.Gly2089Ala
NM_014727.2:c.6266G>C	NP_055542.1:p.Gly2089Ala
XM_011527561.1:c.6200G>C	XP_011525863.1:p.Gly2067Ala
XM_011527562.1:c.6266G>C	XP_011525864.1:p.Gly2089Ala
XM_011527563.1:c.5990G>C	XP_011525865.1:p.Gly1997Ala
XM_011527561.2:c.5702G>C	XP_011525863.2:p.Gly1901Ala
XM_011527562.2:c.6266G>C	XP_011525864.1:p.Gly2089Ala
XM_017027544.1:c.6266G>C	XP_016883033.1:p.Gly2089Ala
XM_017027545.1:c.5702G>C	XP_016883034.1:p.Gly1901Ala
XM_017027546.1:c.3230G>C	XP_016883035.1:p.Gly1077Ala
NM_014727.3:c.6266G>C MANE Select	NP_055542.1:p.Gly2089Ala