Canonical Allele Identifier: CA449779132
Gene: VARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.30890922C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923145C>A , CM000668.2:g.30923145C>A GRCh38
NC_000006.11:g.30890922C>A , CM000668.1:g.30890922C>A GRCh37
NC_000006.10:g.30998901C>A NCBI36
NG_034224.1:g.13938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2227C>A ENSP00000441000.2:p.Arg743=
ENST00000672801.1:c.2221C>A ENSP00000500615.1:p.Arg741=
ENST00000676266.1:c.2227C>A MANE Select ENSP00000502585.1:p.Arg743=
ENST00000321897.9:c.2227C>A ENSP00000316092.5:p.Arg743=
ENST00000469358.5:n.2215C>A
ENST00000476162.5:n.1014C>A
ENST00000477052.1:n.313C>A
ENST00000477288.5:n.4840C>A
ENST00000541562.5:c.2317C>A ENSP00000441000.1:p.Arg773=
ENST00000542001.5:c.2221C>A ENSP00000438200.2:p.Arg741=
ENST00000625423.2:c.1807C>A ENSP00000485818.1:p.Arg603=
NM_001167733.2:c.1807C>A NP_001161205.1:p.Arg603=
NM_001167734.1:c.2317C>A NP_001161206.1:p.Arg773=
NM_020442.5:c.2227C>A NP_065175.4:p.Arg743=
NM_001167733.3:c.1807C>A NP_001161205.1:p.Arg603=
NM_001167734.2:c.2317C>A NP_001161206.1:p.Arg773=
NM_020442.6:c.2227C>A MANE Select NP_065175.4:p.Arg743=