Canonical Allele Identifier: CA9385691

Gene: KMT2B

Linked Data

• dbSNP Id: rs767647873
• ExAC: 19:36223902 G / A
• gnomAD v2: 19-36223902-G-A
• gnomAD v4: 19-35733001-G-A
• MyVariant Identifiers: chr19:g.36223902G>A (hg19) ; chr19:g.35733001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733001G>A , CM000681.2:g.35733001G>A	GRCh38
NC_000019.9:g.36223902G>A , CM000681.1:g.36223902G>A	GRCh37
NC_000019.8:g.40915742G>A	NCBI36
NG_052906.1:g.19983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.758G>A
ENST00000673918.2:c.6386G>A	ENSP00000501283.1:p.Gly2129Asp
ENST00000674114.2:c.3993G>A	ENSP00000501039.2:n.3993G>A
ENST00000684977.1:c.1670G>A	ENSP00000509384.1:p.Gly557Asp
ENST00000689544.1:n.1605G>A
ENST00000691421.1:c.1673G>A	ENSP00000508674.1:p.Gly558Asp
ENST00000691855.1:c.5994G>A
ENST00000692961.1:c.6452G>A	ENSP00000509289.1:p.Gly2151Asp
ENST00000693677.1:c.705-596G>A	ENSP00000509779.1:n.705-596G>A
ENST00000420124.4:c.6452G>A MANE Select	ENSP00000398837.2:p.Gly2151Asp
ENST00000673918.1:c.6386G>A	ENSP00000501283.1:p.Gly2129Asp
ENST00000674114.1:c.3774G>A
ENST00000420124.2:c.6452G>A	ENSP00000398837.1:p.Gly2151Asp
NM_014727.2:c.6452G>A	NP_055542.1:p.Gly2151Asp
XM_011527561.1:c.6386G>A	XP_011525863.1:p.Gly2129Asp
XM_011527562.1:c.6452G>A	XP_011525864.1:p.Gly2151Asp
XM_011527563.1:c.6176G>A	XP_011525865.1:p.Gly2059Asp
XM_011527561.2:c.5888G>A	XP_011525863.2:p.Gly1963Asp
XM_011527562.2:c.6452G>A	XP_011525864.1:p.Gly2151Asp
XM_017027544.1:c.6452G>A	XP_016883033.1:p.Gly2151Asp
XM_017027545.1:c.5888G>A	XP_016883034.1:p.Gly1963Asp
XM_017027546.1:c.3416G>A	XP_016883035.1:p.Gly1139Asp
NM_014727.3:c.6452G>A MANE Select	NP_055542.1:p.Gly2151Asp