Canonical Allele Identifier: CA507308873

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1946867
• ClinVar RCV Id: RCV002654035
• dbSNP Id: rs1203674124
• gnomAD v2: 19-36223867-G-A
• gnomAD v4: 19-35732966-G-A
• MyVariant Identifiers: chr19:g.36223867G>A (hg19) ; chr19:g.35732966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732966G>A , CM000681.2:g.35732966G>A	GRCh38
NC_000019.9:g.36223867G>A , CM000681.1:g.36223867G>A	GRCh37
NC_000019.8:g.40915707G>A	NCBI36
NG_052906.1:g.19948G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.723G>A
ENST00000673918.2:c.6351G>A	ENSP00000501283.1:p.Ala2117=
ENST00000674114.2:c.3958G>A	ENSP00000501039.2:n.3958G>A
ENST00000684977.1:c.1635G>A	ENSP00000509384.1:p.Ala545=
ENST00000689544.1:n.1570G>A
ENST00000691421.1:c.1638G>A	ENSP00000508674.1:p.Ala546=
ENST00000691855.1:c.5959G>A
ENST00000692961.1:c.6417G>A	ENSP00000509289.1:p.Ala2139=
ENST00000693677.1:c.705-631G>A	ENSP00000509779.1:n.705-631G>A
ENST00000420124.4:c.6417G>A MANE Select	ENSP00000398837.2:p.Ala2139=
ENST00000673918.1:c.6351G>A	ENSP00000501283.1:p.Ala2117=
ENST00000674114.1:c.3739G>A
ENST00000420124.2:c.6417G>A	ENSP00000398837.1:p.Ala2139=
NM_014727.2:c.6417G>A	NP_055542.1:p.Ala2139=
XM_011527561.1:c.6351G>A	XP_011525863.1:p.Ala2117=
XM_011527562.1:c.6417G>A	XP_011525864.1:p.Ala2139=
XM_011527563.1:c.6141G>A	XP_011525865.1:p.Ala2047=
XM_011527561.2:c.5853G>A	XP_011525863.2:p.Ala1951=
XM_011527562.2:c.6417G>A	XP_011525864.1:p.Ala2139=
XM_017027544.1:c.6417G>A	XP_016883033.1:p.Ala2139=
XM_017027545.1:c.5853G>A	XP_016883034.1:p.Ala1951=
XM_017027546.1:c.3381G>A	XP_016883035.1:p.Ala1127=
NM_014727.3:c.6417G>A MANE Select	NP_055542.1:p.Ala2139=