Canonical Allele Identifier: CA2677908998
Gene: VARS2 HGNC NCBI

Linked Data

gnomAD v4: 6-30922875-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922875C>T , CM000668.2:g.30922875C>T GRCh38
NC_000006.11:g.30890652C>T , CM000668.1:g.30890652C>T GRCh37
NC_000006.10:g.30998631C>T NCBI36
NG_034224.1:g.13668C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2107-23C>T ENSP00000441000.2:n.2107-23C>T
ENST00000672801.1:c.2101-23C>T ENSP00000500615.1:n.2101-23C>T
ENST00000676266.1:c.2107-23C>T MANE Select ENSP00000502585.1:n.2107-23C>T
ENST00000321897.9:c.2107-23C>T ENSP00000316092.5:n.2107-23C>T
ENST00000469358.5:n.2095-23C>T
ENST00000476162.5:n.894-23C>T
ENST00000477052.1:n.193-23C>T
ENST00000477288.5:n.4720-23C>T
ENST00000541562.5:c.2197-23C>T ENSP00000441000.1:n.2197-23C>T
ENST00000542001.5:c.2101-23C>T ENSP00000438200.2:n.2101-23C>T
ENST00000625423.2:c.1687-23C>T ENSP00000485818.1:n.1687-23C>T
NM_001167733.2:c.1687-23C>T NP_001161205.1:n.1687-23C>T
NM_001167734.1:c.2197-23C>T NP_001161206.1:n.2197-23C>T
NM_020442.5:c.2107-23C>T NP_065175.4:n.2107-23C>T
NM_001167733.3:c.1687-23C>T NP_001161205.1:n.1687-23C>T
NM_001167734.2:c.2197-23C>T NP_001161206.1:n.2197-23C>T
NM_020442.6:c.2107-23C>T MANE Select NP_065175.4:n.2107-23C>T