Canonical Allele Identifier: CA405428073

Gene: KMT2B

Linked Data

• dbSNP Id: rs1191264694
• gnomAD v2: 19-36223817-G-A
• gnomAD v4: 19-35732916-G-A
• MyVariant Identifiers: chr19:g.36223817G>A (hg19) ; chr19:g.35732916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732916G>A , CM000681.2:g.35732916G>A	GRCh38
NC_000019.9:g.36223817G>A , CM000681.1:g.36223817G>A	GRCh37
NC_000019.8:g.40915657G>A	NCBI36
NG_052906.1:g.19898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.673G>A
ENST00000673918.2:c.6301G>A	ENSP00000501283.1:p.Gly2101Ser
ENST00000674114.2:c.3908G>A	ENSP00000501039.2:n.3908G>A
ENST00000684977.1:c.1585G>A	ENSP00000509384.1:p.Gly529Ser
ENST00000689544.1:n.1520G>A
ENST00000691421.1:c.1588G>A	ENSP00000508674.1:p.Gly530Ser
ENST00000691855.1:c.5909G>A
ENST00000692961.1:c.6367G>A	ENSP00000509289.1:p.Gly2123Ser
ENST00000693677.1:c.704+587G>A	ENSP00000509779.1:n.704+587G>A
ENST00000420124.4:c.6367G>A MANE Select	ENSP00000398837.2:p.Gly2123Ser
ENST00000673918.1:c.6301G>A	ENSP00000501283.1:p.Gly2101Ser
ENST00000674114.1:c.3689G>A
ENST00000420124.2:c.6367G>A	ENSP00000398837.1:p.Gly2123Ser
NM_014727.2:c.6367G>A	NP_055542.1:p.Gly2123Ser
XM_011527561.1:c.6301G>A	XP_011525863.1:p.Gly2101Ser
XM_011527562.1:c.6367G>A	XP_011525864.1:p.Gly2123Ser
XM_011527563.1:c.6091G>A	XP_011525865.1:p.Gly2031Ser
XM_011527561.2:c.5803G>A	XP_011525863.2:p.Gly1935Ser
XM_011527562.2:c.6367G>A	XP_011525864.1:p.Gly2123Ser
XM_017027544.1:c.6367G>A	XP_016883033.1:p.Gly2123Ser
XM_017027545.1:c.5803G>A	XP_016883034.1:p.Gly1935Ser
XM_017027546.1:c.3331G>A	XP_016883035.1:p.Gly1111Ser
NM_014727.3:c.6367G>A MANE Select	NP_055542.1:p.Gly2123Ser