Canonical Allele Identifier: CA3705844

Gene: VARS2

Linked Data

• ClinVar Variation Id: 522814
• ClinVar RCV Id: RCV000625984 ; RCV000676486 ; RCV002252181 ; RCV004547763 ; RCV002529769
• dbSNP Id: rs202201763
• ExAC: 6:30887868 G / A
• gnomAD v2: 6-30887868-G-A
• gnomAD v3: 6-30920091-G-A
• gnomAD v4: 6-30920091-G-A
• MyVariant Identifiers: chr6:g.30887868G>A (hg19) ; chr6:g.30920091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30920091G>A , CM000668.2:g.30920091G>A	GRCh38
NC_000006.11:g.30887868G>A , CM000668.1:g.30887868G>A	GRCh37
NC_000006.10:g.30995847G>A	NCBI36
NG_034224.1:g.10884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.1168G>A	ENSP00000441000.2:p.Ala390Thr
ENST00000672801.1:c.1166-4G>A	ENSP00000500615.1:n.1166-4G>A
ENST00000676266.1:c.1168G>A MANE Select	ENSP00000502585.1:p.Ala390Thr
ENST00000321897.9:c.1168G>A	ENSP00000316092.5:p.Ala390Thr
ENST00000469358.5:n.1088G>A
ENST00000476162.5:n.26G>A
ENST00000477288.5:n.3781G>A
ENST00000541562.5:c.1258G>A	ENSP00000441000.1:p.Ala420Thr
ENST00000542001.5:c.1166-4G>A	ENSP00000438200.2:n.1166-4G>A
ENST00000625423.2:c.748G>A	ENSP00000485818.1:p.Ala250Thr
NM_001167733.2:c.748G>A	NP_001161205.1:p.Ala250Thr
NM_001167734.1:c.1258G>A	NP_001161206.1:p.Ala420Thr
NM_020442.5:c.1168G>A	NP_065175.4:p.Ala390Thr
NM_001167733.3:c.748G>A	NP_001161205.1:p.Ala250Thr
NM_001167734.2:c.1258G>A	NP_001161206.1:p.Ala420Thr
NM_020442.6:c.1168G>A MANE Select	NP_065175.4:p.Ala390Thr