Canonical Allele Identifier: CA3705459

Gene: VARS2

Linked Data

• ClinVar Variation Id: 380148
• ClinVar RCV Id: RCV000421351 ; RCV000676476 ; RCV002244877
• dbSNP Id: rs1264306
• ExAC: 6:30882203 T / C
• gnomAD v2: 6-30882203-T-C
• gnomAD v3: 6-30914426-T-C
• gnomAD v4: 6-30914426-T-C
• MyVariant Identifiers: chr6:g.30882203T>C (hg19) ; chr6:g.30914426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30914426T>C , CM000668.2:g.30914426T>C	GRCh38
NC_000006.11:g.30882203T>C , CM000668.1:g.30882203T>C	GRCh37
NC_000006.10:g.30990182T>C	NCBI36
NG_034224.1:g.5219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.-76T>C	ENSP00000441000.2:n.-76T>C
ENST00000672801.1:c.-411T>C	ENSP00000500615.1:n.-411T>C
ENST00000676266.1:c.-28+82T>C MANE Select	ENSP00000502585.1:n.-28+82T>C
ENST00000321897.9:c.-411T>C	ENSP00000316092.5:n.-411T>C
ENST00000421263.1:c.-71T>C	ENSP00000416390.1:n.-71T>C
ENST00000428017.5:c.-33+82T>C	ENSP00000403749.1:n.-33+82T>C
ENST00000467717.5:n.79+82T>C
ENST00000477288.5:n.2178T>C
ENST00000541562.5:c.15T>C	ENSP00000441000.1:p.Ala5=
ENST00000542001.5:c.-411T>C	ENSP00000438200.2:n.-411T>C
ENST00000625423.2:c.-220+82T>C	ENSP00000485818.1:n.-220+82T>C
NM_001167733.2:c.-220+82T>C	NP_001161205.1:n.-220+82T>C
NM_001167734.1:c.15T>C	NP_001161206.1:p.Ala5=
NM_020442.5:c.-28+82T>C	NP_065175.4:n.-28+82T>C
NM_001167733.3:c.-220+82T>C	NP_001161205.1:n.-220+82T>C
NM_001167734.2:c.15T>C	NP_001161206.1:p.Ala5=
NM_020442.6:c.-28+82T>C MANE Select	NP_065175.4:n.-28+82T>C