Canonical Allele Identifier: CA449779138
Gene: VARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.30890924A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923147A>T , CM000668.2:g.30923147A>T GRCh38
NC_000006.11:g.30890924A>T , CM000668.1:g.30890924A>T GRCh37
NC_000006.10:g.30998903A>T NCBI36
NG_034224.1:g.13940A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2229A>T ENSP00000441000.2:p.Arg743=
ENST00000672801.1:c.2223A>T ENSP00000500615.1:p.Arg741=
ENST00000676266.1:c.2229A>T MANE Select ENSP00000502585.1:p.Arg743=
ENST00000321897.9:c.2229A>T ENSP00000316092.5:p.Arg743=
ENST00000469358.5:n.2217A>T
ENST00000476162.5:n.1016A>T
ENST00000477052.1:n.315A>T
ENST00000477288.5:n.4842A>T
ENST00000541562.5:c.2319A>T ENSP00000441000.1:p.Arg773=
ENST00000542001.5:c.2223A>T ENSP00000438200.2:p.Arg741=
ENST00000625423.2:c.1809A>T ENSP00000485818.1:p.Arg603=
NM_001167733.2:c.1809A>T NP_001161205.1:p.Arg603=
NM_001167734.1:c.2319A>T NP_001161206.1:p.Arg773=
NM_020442.5:c.2229A>T NP_065175.4:p.Arg743=
NM_001167733.3:c.1809A>T NP_001161205.1:p.Arg603=
NM_001167734.2:c.2319A>T NP_001161206.1:p.Arg773=
NM_020442.6:c.2229A>T MANE Select NP_065175.4:p.Arg743=