Canonical Allele Identifier: CA363175746
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1285344291
gnomAD v2: 6-30891247-C-T
gnomAD v4: 6-30923470-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923470C>T , CM000668.2:g.30923470C>T GRCh38
NC_000006.11:g.30891247C>T , CM000668.1:g.30891247C>T GRCh37
NC_000006.10:g.30999226C>T NCBI36
NG_034224.1:g.14263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2431C>T ENSP00000441000.2:p.His811Tyr
ENST00000672801.1:c.2425C>T ENSP00000500615.1:p.His809Tyr
ENST00000676266.1:c.2431C>T MANE Select ENSP00000502585.1:p.His811Tyr
ENST00000321897.9:c.2431C>T ENSP00000316092.5:p.His811Tyr
ENST00000469358.5:n.2419C>T
ENST00000473916.1:n.142C>T
ENST00000476162.5:n.1218C>T
ENST00000477052.1:n.517C>T
ENST00000477288.5:n.5044C>T
ENST00000541562.5:c.2521C>T ENSP00000441000.1:p.His841Tyr
ENST00000542001.5:c.2425C>T ENSP00000438200.2:p.His809Tyr
ENST00000625423.2:c.2011C>T ENSP00000485818.1:p.His671Tyr
NM_001167733.2:c.2011C>T NP_001161205.1:p.His671Tyr
NM_001167734.1:c.2521C>T NP_001161206.1:p.His841Tyr
NM_020442.5:c.2431C>T NP_065175.4:p.His811Tyr
NM_001167733.3:c.2011C>T NP_001161205.1:p.His671Tyr
NM_001167734.2:c.2521C>T NP_001161206.1:p.His841Tyr
NM_020442.6:c.2431C>T MANE Select NP_065175.4:p.His811Tyr