Canonical Allele Identifier: CA363174876
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1355458021
gnomAD v2: 6-30890682-A-G
gnomAD v4: 6-30922905-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922905A>G , CM000668.2:g.30922905A>G GRCh38
NC_000006.11:g.30890682A>G , CM000668.1:g.30890682A>G GRCh37
NC_000006.10:g.30998661A>G NCBI36
NG_034224.1:g.13698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2114A>G ENSP00000441000.2:p.Asp705Gly
ENST00000672801.1:c.2108A>G ENSP00000500615.1:p.Asp703Gly
ENST00000676266.1:c.2114A>G MANE Select ENSP00000502585.1:p.Asp705Gly
ENST00000321897.9:c.2114A>G ENSP00000316092.5:p.Asp705Gly
ENST00000469358.5:n.2102A>G
ENST00000476162.5:n.901A>G
ENST00000477052.1:n.200A>G
ENST00000477288.5:n.4727A>G
ENST00000541562.5:c.2204A>G ENSP00000441000.1:p.Asp735Gly
ENST00000542001.5:c.2108A>G ENSP00000438200.2:p.Asp703Gly
ENST00000625423.2:c.1694A>G ENSP00000485818.1:p.Asp565Gly
NM_001167733.2:c.1694A>G NP_001161205.1:p.Asp565Gly
NM_001167734.1:c.2204A>G NP_001161206.1:p.Asp735Gly
NM_020442.5:c.2114A>G NP_065175.4:p.Asp705Gly
NM_001167733.3:c.1694A>G NP_001161205.1:p.Asp565Gly
NM_001167734.2:c.2204A>G NP_001161206.1:p.Asp735Gly
NM_020442.6:c.2114A>G MANE Select NP_065175.4:p.Asp705Gly