Canonical Allele Identifier: CA363175025
Gene: VARS2 HGNC NCBI

Linked Data

gnomAD v4: 6-30922975-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922975G>C , CM000668.2:g.30922975G>C GRCh38
NC_000006.11:g.30890752G>C , CM000668.1:g.30890752G>C GRCh37
NC_000006.10:g.30998731G>C NCBI36
NG_034224.1:g.13768G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2184G>C ENSP00000441000.2:p.Gln728His
ENST00000672801.1:c.2178G>C ENSP00000500615.1:p.Gln726His
ENST00000676266.1:c.2184G>C MANE Select ENSP00000502585.1:p.Gln728His
ENST00000321897.9:c.2184G>C ENSP00000316092.5:p.Gln728His
ENST00000469358.5:n.2172G>C
ENST00000476162.5:n.971G>C
ENST00000477052.1:n.270G>C
ENST00000477288.5:n.4797G>C
ENST00000541562.5:c.2274G>C ENSP00000441000.1:p.Gln758His
ENST00000542001.5:c.2178G>C ENSP00000438200.2:p.Gln726His
ENST00000625423.2:c.1764G>C ENSP00000485818.1:p.Gln588His
NM_001167733.2:c.1764G>C NP_001161205.1:p.Gln588His
NM_001167734.1:c.2274G>C NP_001161206.1:p.Gln758His
NM_020442.5:c.2184G>C NP_065175.4:p.Gln728His
NM_001167733.3:c.1764G>C NP_001161205.1:p.Gln588His
NM_001167734.2:c.2274G>C NP_001161206.1:p.Gln758His
NM_020442.6:c.2184G>C MANE Select NP_065175.4:p.Gln728His