Canonical Allele Identifier: CA405428390

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2967494
• ClinVar RCV Id: RCV003824172
• dbSNP Id: rs1350017018
• gnomAD v2: 19-36223866-C-T
• gnomAD v4: 19-35732965-C-T
• MyVariant Identifiers: chr19:g.36223866C>T (hg19) ; chr19:g.35732965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732965C>T , CM000681.2:g.35732965C>T	GRCh38
NC_000019.9:g.36223866C>T , CM000681.1:g.36223866C>T	GRCh37
NC_000019.8:g.40915706C>T	NCBI36
NG_052906.1:g.19947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.722C>T
ENST00000673918.2:c.6350C>T	ENSP00000501283.1:p.Ala2117Val
ENST00000674114.2:c.3957C>T	ENSP00000501039.2:n.3957C>T
ENST00000684977.1:c.1634C>T	ENSP00000509384.1:p.Ala545Val
ENST00000689544.1:n.1569C>T
ENST00000691421.1:c.1637C>T	ENSP00000508674.1:p.Ala546Val
ENST00000691855.1:c.5958C>T
ENST00000692961.1:c.6416C>T	ENSP00000509289.1:p.Ala2139Val
ENST00000693677.1:c.705-632C>T	ENSP00000509779.1:n.705-632C>T
ENST00000420124.4:c.6416C>T MANE Select	ENSP00000398837.2:p.Ala2139Val
ENST00000673918.1:c.6350C>T	ENSP00000501283.1:p.Ala2117Val
ENST00000674114.1:c.3738C>T
ENST00000420124.2:c.6416C>T	ENSP00000398837.1:p.Ala2139Val
NM_014727.2:c.6416C>T	NP_055542.1:p.Ala2139Val
XM_011527561.1:c.6350C>T	XP_011525863.1:p.Ala2117Val
XM_011527562.1:c.6416C>T	XP_011525864.1:p.Ala2139Val
XM_011527563.1:c.6140C>T	XP_011525865.1:p.Ala2047Val
XM_011527561.2:c.5852C>T	XP_011525863.2:p.Ala1951Val
XM_011527562.2:c.6416C>T	XP_011525864.1:p.Ala2139Val
XM_017027544.1:c.6416C>T	XP_016883033.1:p.Ala2139Val
XM_017027545.1:c.5852C>T	XP_016883034.1:p.Ala1951Val
XM_017027546.1:c.3380C>T	XP_016883035.1:p.Ala1127Val
NM_014727.3:c.6416C>T MANE Select	NP_055542.1:p.Ala2139Val