Canonical Allele Identifier: CA363175881

Gene: VARS2

Linked Data

• dbSNP Id: rs754570639
• gnomAD v2: 6-30891274-G-C
• gnomAD v4: 6-30923497-G-C
• MyVariant Identifiers: chr6:g.30891274G>C (hg19) ; chr6:g.30923497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923497G>C , CM000668.2:g.30923497G>C	GRCh38
NC_000006.11:g.30891274G>C , CM000668.1:g.30891274G>C	GRCh37
NC_000006.10:g.30999253G>C	NCBI36
NG_034224.1:g.14290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2458G>C	ENSP00000441000.2:p.Val820Leu
ENST00000672801.1:c.2452G>C	ENSP00000500615.1:p.Val818Leu
ENST00000676266.1:c.2458G>C MANE Select	ENSP00000502585.1:p.Val820Leu
ENST00000321897.9:c.2458G>C	ENSP00000316092.5:p.Val820Leu
ENST00000469358.5:n.2446G>C
ENST00000473916.1:n.169G>C
ENST00000476162.5:n.1245G>C
ENST00000477052.1:n.544G>C
ENST00000477288.5:n.5071G>C
ENST00000541562.5:c.2548G>C	ENSP00000441000.1:p.Val850Leu
ENST00000542001.5:c.2452G>C	ENSP00000438200.2:p.Val818Leu
ENST00000625423.2:c.2038G>C	ENSP00000485818.1:p.Val680Leu
NM_001167733.2:c.2038G>C	NP_001161205.1:p.Val680Leu
NM_001167734.1:c.2548G>C	NP_001161206.1:p.Val850Leu
NM_020442.5:c.2458G>C	NP_065175.4:p.Val820Leu
NM_001167733.3:c.2038G>C	NP_001161205.1:p.Val680Leu
NM_001167734.2:c.2548G>C	NP_001161206.1:p.Val850Leu
NM_020442.6:c.2458G>C MANE Select	NP_065175.4:p.Val820Leu