Canonical Allele Identifier: CA363174919
Gene: VARS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30922925G>T , CM000668.2:g.30922925G>T GRCh38
NC_000006.11:g.30890702G>T , CM000668.1:g.30890702G>T GRCh37
NC_000006.10:g.30998681G>T NCBI36
NG_034224.1:g.13718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2134G>T ENSP00000441000.2:p.Glu712Ter
ENST00000672801.1:c.2128G>T ENSP00000500615.1:p.Glu710Ter
ENST00000676266.1:c.2134G>T MANE Select ENSP00000502585.1:p.Glu712Ter
ENST00000321897.9:c.2134G>T ENSP00000316092.5:p.Glu712Ter
ENST00000469358.5:n.2122G>T
ENST00000476162.5:n.921G>T
ENST00000477052.1:n.220G>T
ENST00000477288.5:n.4747G>T
ENST00000541562.5:c.2224G>T ENSP00000441000.1:p.Glu742Ter
ENST00000542001.5:c.2128G>T ENSP00000438200.2:p.Glu710Ter
ENST00000625423.2:c.1714G>T ENSP00000485818.1:p.Glu572Ter
NM_001167733.2:c.1714G>T NP_001161205.1:p.Glu572Ter
NM_001167734.1:c.2224G>T NP_001161206.1:p.Glu742Ter
NM_020442.5:c.2134G>T NP_065175.4:p.Glu712Ter
NM_001167733.3:c.1714G>T NP_001161205.1:p.Glu572Ter
NM_001167734.2:c.2224G>T NP_001161206.1:p.Glu742Ter
NM_020442.6:c.2134G>T MANE Select NP_065175.4:p.Glu712Ter