Canonical Allele Identifier: CA363175797
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs2150567033
gnomAD v4: 6-30923479-C-T
COSMIC: COSM483836

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923479C>T , CM000668.2:g.30923479C>T GRCh38
NC_000006.11:g.30891256C>T , CM000668.1:g.30891256C>T GRCh37
NC_000006.10:g.30999235C>T NCBI36
NG_034224.1:g.14272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2440C>T ENSP00000441000.2:p.Leu814Phe
ENST00000672801.1:c.2434C>T ENSP00000500615.1:p.Leu812Phe
ENST00000676266.1:c.2440C>T MANE Select ENSP00000502585.1:p.Leu814Phe
ENST00000321897.9:c.2440C>T ENSP00000316092.5:p.Leu814Phe
ENST00000469358.5:n.2428C>T
ENST00000473916.1:n.151C>T
ENST00000476162.5:n.1227C>T
ENST00000477052.1:n.526C>T
ENST00000477288.5:n.5053C>T
ENST00000541562.5:c.2530C>T ENSP00000441000.1:p.Leu844Phe
ENST00000542001.5:c.2434C>T ENSP00000438200.2:p.Leu812Phe
ENST00000625423.2:c.2020C>T ENSP00000485818.1:p.Leu674Phe
NM_001167733.2:c.2020C>T NP_001161205.1:p.Leu674Phe
NM_001167734.1:c.2530C>T NP_001161206.1:p.Leu844Phe
NM_020442.5:c.2440C>T NP_065175.4:p.Leu814Phe
NM_001167733.3:c.2020C>T NP_001161205.1:p.Leu674Phe
NM_001167734.2:c.2530C>T NP_001161206.1:p.Leu844Phe
NM_020442.6:c.2440C>T MANE Select NP_065175.4:p.Leu814Phe