Canonical Allele Identifier: CA449779122
Gene: VARS2 HGNC NCBI

Linked Data

dbSNP Id: rs1794635294
MyVariant Identifiers: chr6:g.30890903C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923126C>T , CM000668.2:g.30923126C>T GRCh38
NC_000006.11:g.30890903C>T , CM000668.1:g.30890903C>T GRCh37
NC_000006.10:g.30998882C>T NCBI36
NG_034224.1:g.13919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2208C>T ENSP00000441000.2:p.Val736=
ENST00000672801.1:c.2202C>T ENSP00000500615.1:p.Val734=
ENST00000676266.1:c.2208C>T MANE Select ENSP00000502585.1:p.Val736=
ENST00000321897.9:c.2208C>T ENSP00000316092.5:p.Val736=
ENST00000469358.5:n.2196C>T
ENST00000476162.5:n.995C>T
ENST00000477052.1:n.294C>T
ENST00000477288.5:n.4821C>T
ENST00000541562.5:c.2298C>T ENSP00000441000.1:p.Val766=
ENST00000542001.5:c.2202C>T ENSP00000438200.2:p.Val734=
ENST00000625423.2:c.1788C>T ENSP00000485818.1:p.Val596=
NM_001167733.2:c.1788C>T NP_001161205.1:p.Val596=
NM_001167734.1:c.2298C>T NP_001161206.1:p.Val766=
NM_020442.5:c.2208C>T NP_065175.4:p.Val736=
NM_001167733.3:c.1788C>T NP_001161205.1:p.Val596=
NM_001167734.2:c.2298C>T NP_001161206.1:p.Val766=
NM_020442.6:c.2208C>T MANE Select NP_065175.4:p.Val736=