Canonical Allele Identifier: CA9385660

Gene: KMT2B

Linked Data

• dbSNP Id: rs780362707
• ExAC: 19:36223751 G / A
• gnomAD v2: 19-36223751-G-A
• gnomAD v4: 19-35732850-G-A
• MyVariant Identifiers: chr19:g.36223751G>A (hg19) ; chr19:g.35732850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732850G>A , CM000681.2:g.35732850G>A	GRCh38
NC_000019.9:g.36223751G>A , CM000681.1:g.36223751G>A	GRCh37
NC_000019.8:g.40915591G>A	NCBI36
NG_052906.1:g.19832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.607G>A
ENST00000673918.2:c.6235G>A	ENSP00000501283.1:p.Asp2079Asn
ENST00000674114.2:c.3842G>A	ENSP00000501039.2:n.3842G>A
ENST00000684977.1:c.1519G>A	ENSP00000509384.1:p.Asp507Asn
ENST00000689544.1:n.1454G>A
ENST00000691421.1:c.1522G>A	ENSP00000508674.1:p.Asp508Asn
ENST00000691855.1:c.5843G>A
ENST00000692961.1:c.6301G>A	ENSP00000509289.1:p.Asp2101Asn
ENST00000693677.1:c.704+521G>A	ENSP00000509779.1:n.704+521G>A
ENST00000420124.4:c.6301G>A MANE Select	ENSP00000398837.2:p.Asp2101Asn
ENST00000673918.1:c.6235G>A	ENSP00000501283.1:p.Asp2079Asn
ENST00000674114.1:c.3623G>A
ENST00000420124.2:c.6301G>A	ENSP00000398837.1:p.Asp2101Asn
NM_014727.2:c.6301G>A	NP_055542.1:p.Asp2101Asn
XM_011527561.1:c.6235G>A	XP_011525863.1:p.Asp2079Asn
XM_011527562.1:c.6301G>A	XP_011525864.1:p.Asp2101Asn
XM_011527563.1:c.6025G>A	XP_011525865.1:p.Asp2009Asn
XM_011527561.2:c.5737G>A	XP_011525863.2:p.Asp1913Asn
XM_011527562.2:c.6301G>A	XP_011525864.1:p.Asp2101Asn
XM_017027544.1:c.6301G>A	XP_016883033.1:p.Asp2101Asn
XM_017027545.1:c.5737G>A	XP_016883034.1:p.Asp1913Asn
XM_017027546.1:c.3265G>A	XP_016883035.1:p.Asp1089Asn
NM_014727.3:c.6301G>A MANE Select	NP_055542.1:p.Asp2101Asn