Canonical Allele Identifier: CA307796070

Gene: KMT2B

Linked Data

• dbSNP Id: rs371641922
• gnomAD v4: 19-35732576-C-G
• MyVariant Identifiers: chr19:g.36223477C>G (hg19) ; chr19:g.35732576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732576C>G , CM000681.2:g.35732576C>G	GRCh38
NC_000019.9:g.36223477C>G , CM000681.1:g.36223477C>G	GRCh37
NC_000019.8:g.40915317C>G	NCBI36
NG_052906.1:g.19558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.333C>G
ENST00000673918.2:c.5961C>G	ENSP00000501283.1:p.Ala1987=
ENST00000674114.2:c.3568C>G	ENSP00000501039.2:n.3568C>G
ENST00000684977.1:c.1245C>G	ENSP00000509384.1:p.Ala415=
ENST00000689544.1:n.1180C>G
ENST00000691421.1:c.1248C>G	ENSP00000508674.1:p.Ala416=
ENST00000691855.1:c.5569C>G
ENST00000692961.1:c.6027C>G	ENSP00000509289.1:p.Ala2009=
ENST00000693677.1:c.704+247C>G	ENSP00000509779.1:n.704+247C>G
ENST00000420124.4:c.6027C>G MANE Select	ENSP00000398837.2:p.Ala2009=
ENST00000673918.1:c.5961C>G	ENSP00000501283.1:p.Ala1987=
ENST00000674114.1:c.3349C>G
ENST00000420124.2:c.6027C>G	ENSP00000398837.1:p.Ala2009=
NM_014727.2:c.6027C>G	NP_055542.1:p.Ala2009=
XM_011527561.1:c.5961C>G	XP_011525863.1:p.Ala1987=
XM_011527562.1:c.6027C>G	XP_011525864.1:p.Ala2009=
XM_011527563.1:c.5751C>G	XP_011525865.1:p.Ala1917=
XM_011527561.2:c.5463C>G	XP_011525863.2:p.Ala1821=
XM_011527562.2:c.6027C>G	XP_011525864.1:p.Ala2009=
XM_017027544.1:c.6027C>G	XP_016883033.1:p.Ala2009=
XM_017027545.1:c.5463C>G	XP_016883034.1:p.Ala1821=
XM_017027546.1:c.2991C>G	XP_016883035.1:p.Ala997=
NM_014727.3:c.6027C>G MANE Select	NP_055542.1:p.Ala2009=