Canonical Allele Identifier: CA3706209

Gene: VARS2

Linked Data

• ClinVar Variation Id: 380159
• ClinVar RCV Id: RCV002244879
• dbSNP Id: rs753725
• ExAC: 6:30890871 T / C
• gnomAD v2: 6-30890871-T-C
• gnomAD v3: 6-30923094-T-C
• gnomAD v4: 6-30923094-T-C
• MyVariant Identifiers: chr6:g.30890871T>C (hg19) ; chr6:g.30923094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923094T>C , CM000668.2:g.30923094T>C	GRCh38
NC_000006.11:g.30890871T>C , CM000668.1:g.30890871T>C	GRCh37
NC_000006.10:g.30998850T>C	NCBI36
NG_034224.1:g.13887T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000541562.6:c.2186-10T>C	ENSP00000441000.2:n.2186-10T>C
ENST00000672801.1:c.2180-10T>C	ENSP00000500615.1:n.2180-10T>C
ENST00000676266.1:c.2186-10T>C MANE Select	ENSP00000502585.1:n.2186-10T>C
ENST00000321897.9:c.2186-10T>C	ENSP00000316092.5:n.2186-10T>C
ENST00000469358.5:n.2174-10T>C
ENST00000476162.5:n.973-10T>C
ENST00000477052.1:n.272-10T>C
ENST00000477288.5:n.4799-10T>C
ENST00000541562.5:c.2276-10T>C	ENSP00000441000.1:n.2276-10T>C
ENST00000542001.5:c.2180-10T>C	ENSP00000438200.2:n.2180-10T>C
ENST00000625423.2:c.1766-10T>C	ENSP00000485818.1:n.1766-10T>C
NM_001167733.2:c.1766-10T>C	NP_001161205.1:n.1766-10T>C
NM_001167734.1:c.2276-10T>C	NP_001161206.1:n.2276-10T>C
NM_020442.5:c.2186-10T>C	NP_065175.4:n.2186-10T>C
NM_001167733.3:c.1766-10T>C	NP_001161205.1:n.1766-10T>C
NM_001167734.2:c.2276-10T>C	NP_001161206.1:n.2276-10T>C
NM_020442.6:c.2186-10T>C MANE Select	NP_065175.4:n.2186-10T>C