Canonical Allele Identifier: CA9385693

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1176074
• ClinVar RCV Id: RCV001531461
• dbSNP Id: rs377080591
• ExAC: 19:36223910 G / A
• gnomAD v2: 19-36223910-G-A
• gnomAD v3: 19-35733009-G-A
• gnomAD v4: 19-35733009-G-A
• MyVariant Identifiers: chr19:g.36223910G>A (hg19) ; chr19:g.35733009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733009G>A , CM000681.2:g.35733009G>A	GRCh38
NC_000019.9:g.36223910G>A , CM000681.1:g.36223910G>A	GRCh37
NC_000019.8:g.40915750G>A	NCBI36
NG_052906.1:g.19991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.766G>A
ENST00000673918.2:c.6394G>A	ENSP00000501283.1:p.Ala2132Thr
ENST00000674114.2:c.4001G>A	ENSP00000501039.2:n.4001G>A
ENST00000684977.1:c.1678G>A	ENSP00000509384.1:p.Ala560Thr
ENST00000689544.1:n.1613G>A
ENST00000691421.1:c.1681G>A	ENSP00000508674.1:p.Ala561Thr
ENST00000691855.1:c.6002G>A
ENST00000692961.1:c.6460G>A	ENSP00000509289.1:p.Ala2154Thr
ENST00000693677.1:c.705-588G>A	ENSP00000509779.1:n.705-588G>A
ENST00000420124.4:c.6460G>A MANE Select	ENSP00000398837.2:p.Ala2154Thr
ENST00000673918.1:c.6394G>A	ENSP00000501283.1:p.Ala2132Thr
ENST00000674114.1:c.3782G>A
ENST00000420124.2:c.6460G>A	ENSP00000398837.1:p.Ala2154Thr
NM_014727.2:c.6460G>A	NP_055542.1:p.Ala2154Thr
XM_011527561.1:c.6394G>A	XP_011525863.1:p.Ala2132Thr
XM_011527562.1:c.6460G>A	XP_011525864.1:p.Ala2154Thr
XM_011527563.1:c.6184G>A	XP_011525865.1:p.Ala2062Thr
XM_011527561.2:c.5896G>A	XP_011525863.2:p.Ala1966Thr
XM_011527562.2:c.6460G>A	XP_011525864.1:p.Ala2154Thr
XM_017027544.1:c.6460G>A	XP_016883033.1:p.Ala2154Thr
XM_017027545.1:c.5896G>A	XP_016883034.1:p.Ala1966Thr
XM_017027546.1:c.3424G>A	XP_016883035.1:p.Ala1142Thr
NM_014727.3:c.6460G>A MANE Select	NP_055542.1:p.Ala2154Thr