Canonical Allele Identifier: CA566687347
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1160597927
gnomAD v2: 6-30890632-G-T
gnomAD v4: 6-30922855-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922855G>T , CM000668.2:g.30922855G>T GRCh38
NC_000006.11:g.30890632G>T , CM000668.1:g.30890632G>T GRCh37
NC_000006.10:g.30998611G>T NCBI36
NG_034224.1:g.13648G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2107-43G>T ENSP00000441000.2:n.2107-43G>T
ENST00000672801.1:c.2101-43G>T ENSP00000500615.1:n.2101-43G>T
ENST00000676266.1:c.2107-43G>T MANE Select ENSP00000502585.1:n.2107-43G>T
ENST00000321897.9:c.2107-43G>T ENSP00000316092.5:n.2107-43G>T
ENST00000469358.5:n.2095-43G>T
ENST00000476162.5:n.894-43G>T
ENST00000477052.1:n.193-43G>T
ENST00000477288.5:n.4720-43G>T
ENST00000541562.5:c.2197-43G>T ENSP00000441000.1:n.2197-43G>T
ENST00000542001.5:c.2101-43G>T ENSP00000438200.2:n.2101-43G>T
ENST00000625423.2:c.1687-43G>T ENSP00000485818.1:n.1687-43G>T
NM_001167733.2:c.1687-43G>T NP_001161205.1:n.1687-43G>T
NM_001167734.1:c.2197-43G>T NP_001161206.1:n.2197-43G>T
NM_020442.5:c.2107-43G>T NP_065175.4:n.2107-43G>T
NM_001167733.3:c.1687-43G>T NP_001161205.1:n.1687-43G>T
NM_001167734.2:c.2197-43G>T NP_001161206.1:n.2197-43G>T
NM_020442.6:c.2107-43G>T MANE Select NP_065175.4:n.2107-43G>T