Canonical Allele Identifier: CA9385682

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2132567
• ClinVar RCV Id: RCV003036812
• dbSNP Id: rs372860000
• ExAC: 19:36223862 C / A
• gnomAD v2: 19-36223862-C-A
• gnomAD v3: 19-35732961-C-A
• gnomAD v4: 19-35732961-C-A
• MyVariant Identifiers: chr19:g.36223862C>A (hg19) ; chr19:g.35732961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732961C>A , CM000681.2:g.35732961C>A	GRCh38
NC_000019.9:g.36223862C>A , CM000681.1:g.36223862C>A	GRCh37
NC_000019.8:g.40915702C>A	NCBI36
NG_052906.1:g.19943C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.718C>A
ENST00000673918.2:c.6346C>A	ENSP00000501283.1:p.Pro2116Thr
ENST00000674114.2:c.3953C>A	ENSP00000501039.2:n.3953C>A
ENST00000684977.1:c.1630C>A	ENSP00000509384.1:p.Pro544Thr
ENST00000689544.1:n.1565C>A
ENST00000691421.1:c.1633C>A	ENSP00000508674.1:p.Pro545Thr
ENST00000691855.1:c.5954C>A
ENST00000692961.1:c.6412C>A	ENSP00000509289.1:p.Pro2138Thr
ENST00000693677.1:c.704+632C>A	ENSP00000509779.1:n.704+632C>A
ENST00000420124.4:c.6412C>A MANE Select	ENSP00000398837.2:p.Pro2138Thr
ENST00000673918.1:c.6346C>A	ENSP00000501283.1:p.Pro2116Thr
ENST00000674114.1:c.3734C>A
ENST00000420124.2:c.6412C>A	ENSP00000398837.1:p.Pro2138Thr
NM_014727.2:c.6412C>A	NP_055542.1:p.Pro2138Thr
XM_011527561.1:c.6346C>A	XP_011525863.1:p.Pro2116Thr
XM_011527562.1:c.6412C>A	XP_011525864.1:p.Pro2138Thr
XM_011527563.1:c.6136C>A	XP_011525865.1:p.Pro2046Thr
XM_011527561.2:c.5848C>A	XP_011525863.2:p.Pro1950Thr
XM_011527562.2:c.6412C>A	XP_011525864.1:p.Pro2138Thr
XM_017027544.1:c.6412C>A	XP_016883033.1:p.Pro2138Thr
XM_017027545.1:c.5848C>A	XP_016883034.1:p.Pro1950Thr
XM_017027546.1:c.3376C>A	XP_016883035.1:p.Pro1126Thr
NM_014727.3:c.6412C>A MANE Select	NP_055542.1:p.Pro2138Thr