Canonical Allele Identifier: CA136811890
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs772213747
gnomAD v3: 6-30923329-C-T
gnomAD v4: 6-30923329-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923329C>T , CM000668.2:g.30923329C>T GRCh38
NC_000006.11:g.30891106C>T , CM000668.1:g.30891106C>T GRCh37
NC_000006.10:g.30999085C>T NCBI36
NG_034224.1:g.14122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2314-24C>T ENSP00000441000.2:n.2314-24C>T
ENST00000672801.1:c.2308-24C>T ENSP00000500615.1:n.2308-24C>T
ENST00000676266.1:c.2314-24C>T MANE Select ENSP00000502585.1:n.2314-24C>T
ENST00000321897.9:c.2314-24C>T ENSP00000316092.5:n.2314-24C>T
ENST00000469358.5:n.2302-24C>T
ENST00000473916.1:n.25-24C>T
ENST00000476162.5:n.1101-24C>T
ENST00000477052.1:n.400-24C>T
ENST00000477288.5:n.4927-24C>T
ENST00000541562.5:c.2404-24C>T ENSP00000441000.1:n.2404-24C>T
ENST00000542001.5:c.2308-24C>T ENSP00000438200.2:n.2308-24C>T
ENST00000625423.2:c.1894-24C>T ENSP00000485818.1:n.1894-24C>T
NM_001167733.2:c.1894-24C>T NP_001161205.1:n.1894-24C>T
NM_001167734.1:c.2404-24C>T NP_001161206.1:n.2404-24C>T
NM_020442.5:c.2314-24C>T NP_065175.4:n.2314-24C>T
NM_001167733.3:c.1894-24C>T NP_001161205.1:n.1894-24C>T
NM_001167734.2:c.2404-24C>T NP_001161206.1:n.2404-24C>T
NM_020442.6:c.2314-24C>T MANE Select NP_065175.4:n.2314-24C>T