Canonical Allele Identifier: CA2677908798
Gene: VARS2 HGNC NCBI

Linked Data

gnomAD v4: 6-30922824-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922824C>A , CM000668.2:g.30922824C>A GRCh38
NC_000006.11:g.30890601C>A , CM000668.1:g.30890601C>A GRCh37
NC_000006.10:g.30998580C>A NCBI36
NG_034224.1:g.13617C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2106+50C>A ENSP00000441000.2:n.2106+50C>A
ENST00000672801.1:c.2100+50C>A ENSP00000500615.1:n.2100+50C>A
ENST00000676266.1:c.2106+50C>A MANE Select ENSP00000502585.1:n.2106+50C>A
ENST00000321897.9:c.2106+50C>A ENSP00000316092.5:n.2106+50C>A
ENST00000469358.5:n.2094+50C>A
ENST00000476162.5:n.893+50C>A
ENST00000477052.1:n.192+50C>A
ENST00000477288.5:n.4719+50C>A
ENST00000541562.5:c.2196+50C>A ENSP00000441000.1:n.2196+50C>A
ENST00000542001.5:c.2100+50C>A ENSP00000438200.2:n.2100+50C>A
ENST00000625423.2:c.1686+50C>A ENSP00000485818.1:n.1686+50C>A
NM_001167733.2:c.1686+50C>A NP_001161205.1:n.1686+50C>A
NM_001167734.1:c.2196+50C>A NP_001161206.1:n.2196+50C>A
NM_020442.5:c.2106+50C>A NP_065175.4:n.2106+50C>A
NM_001167733.3:c.1686+50C>A NP_001161205.1:n.1686+50C>A
NM_001167734.2:c.2196+50C>A NP_001161206.1:n.2196+50C>A
NM_020442.6:c.2106+50C>A MANE Select NP_065175.4:n.2106+50C>A