Canonical Allele Identifier: CA3706259

Gene: VARS2

Linked Data

• dbSNP Id: rs575047657
• ExAC: 6:30891219 G / C
• gnomAD v2: 6-30891219-G-C
• gnomAD v3: 6-30923442-G-C
• gnomAD v4: 6-30923442-G-C
• MyVariant Identifiers: chr6:g.30891219G>C (hg19) ; chr6:g.30923442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923442G>C , CM000668.2:g.30923442G>C	GRCh38
NC_000006.11:g.30891219G>C , CM000668.1:g.30891219G>C	GRCh37
NC_000006.10:g.30999198G>C	NCBI36
NG_034224.1:g.14235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2403G>C	ENSP00000441000.2:p.Glu801Asp
ENST00000672801.1:c.2397G>C	ENSP00000500615.1:p.Glu799Asp
ENST00000676266.1:c.2403G>C MANE Select	ENSP00000502585.1:p.Glu801Asp
ENST00000321897.9:c.2403G>C	ENSP00000316092.5:p.Glu801Asp
ENST00000469358.5:n.2391G>C
ENST00000473916.1:n.114G>C
ENST00000476162.5:n.1190G>C
ENST00000477052.1:n.489G>C
ENST00000477288.5:n.5016G>C
ENST00000541562.5:c.2493G>C	ENSP00000441000.1:p.Glu831Asp
ENST00000542001.5:c.2397G>C	ENSP00000438200.2:p.Glu799Asp
ENST00000625423.2:c.1983G>C	ENSP00000485818.1:p.Glu661Asp
NM_001167733.2:c.1983G>C	NP_001161205.1:p.Glu661Asp
NM_001167734.1:c.2493G>C	NP_001161206.1:p.Glu831Asp
NM_020442.5:c.2403G>C	NP_065175.4:p.Glu801Asp
NM_001167733.3:c.1983G>C	NP_001161205.1:p.Glu661Asp
NM_001167734.2:c.2493G>C	NP_001161206.1:p.Glu831Asp
NM_020442.6:c.2403G>C MANE Select	NP_065175.4:p.Glu801Asp