Canonical Allele Identifier: CA1087405420
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1366100116
gnomAD v3: 6-30923544-G-T
gnomAD v4: 6-30923544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923544G>T , CM000668.2:g.30923544G>T GRCh38
NC_000006.11:g.30891321G>T , CM000668.1:g.30891321G>T GRCh37
NC_000006.10:g.30999300G>T NCBI36
NG_034224.1:g.14337G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2466+39G>T ENSP00000441000.2:n.2466+39G>T
ENST00000672801.1:c.2460+39G>T ENSP00000500615.1:n.2460+39G>T
ENST00000676266.1:c.2466+39G>T MANE Select ENSP00000502585.1:n.2466+39G>T
ENST00000321897.9:c.2466+39G>T ENSP00000316092.5:n.2466+39G>T
ENST00000469358.5:n.2454+39G>T
ENST00000473916.1:n.216G>T
ENST00000476162.5:n.1253+39G>T
ENST00000477288.5:n.5079+39G>T
ENST00000541562.5:c.2556+39G>T ENSP00000441000.1:n.2556+39G>T
ENST00000542001.5:c.2460+39G>T ENSP00000438200.2:n.2460+39G>T
ENST00000625423.2:c.2046+39G>T ENSP00000485818.1:n.2046+39G>T
NM_001167733.2:c.2046+39G>T NP_001161205.1:n.2046+39G>T
NM_001167734.1:c.2556+39G>T NP_001161206.1:n.2556+39G>T
NM_020442.5:c.2466+39G>T NP_065175.4:n.2466+39G>T
NM_001167733.3:c.2046+39G>T NP_001161205.1:n.2046+39G>T
NM_001167734.2:c.2556+39G>T NP_001161206.1:n.2556+39G>T
NM_020442.6:c.2466+39G>T MANE Select NP_065175.4:n.2466+39G>T