Canonical Allele Identifier: CA363174973
Gene: VARS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922950T>C , CM000668.2:g.30922950T>C GRCh38
NC_000006.11:g.30890727T>C , CM000668.1:g.30890727T>C GRCh37
NC_000006.10:g.30998706T>C NCBI36
NG_034224.1:g.13743T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2159T>C ENSP00000441000.2:p.Phe720Ser
ENST00000672801.1:c.2153T>C ENSP00000500615.1:p.Phe718Ser
ENST00000676266.1:c.2159T>C MANE Select ENSP00000502585.1:p.Phe720Ser
ENST00000321897.9:c.2159T>C ENSP00000316092.5:p.Phe720Ser
ENST00000469358.5:n.2147T>C
ENST00000476162.5:n.946T>C
ENST00000477052.1:n.245T>C
ENST00000477288.5:n.4772T>C
ENST00000541562.5:c.2249T>C ENSP00000441000.1:p.Phe750Ser
ENST00000542001.5:c.2153T>C ENSP00000438200.2:p.Phe718Ser
ENST00000625423.2:c.1739T>C ENSP00000485818.1:p.Phe580Ser
NM_001167733.2:c.1739T>C NP_001161205.1:p.Phe580Ser
NM_001167734.1:c.2249T>C NP_001161206.1:p.Phe750Ser
NM_020442.5:c.2159T>C NP_065175.4:p.Phe720Ser
NM_001167733.3:c.1739T>C NP_001161205.1:p.Phe580Ser
NM_001167734.2:c.2249T>C NP_001161206.1:p.Phe750Ser
NM_020442.6:c.2159T>C MANE Select NP_065175.4:p.Phe720Ser