Canonical Allele Identifier: CA449586334
Gene: VARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.30891195T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923418T>C , CM000668.2:g.30923418T>C GRCh38
NC_000006.11:g.30891195T>C , CM000668.1:g.30891195T>C GRCh37
NC_000006.10:g.30999174T>C NCBI36
NG_034224.1:g.14211T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2379T>C ENSP00000441000.2:p.Cys793=
ENST00000672801.1:c.2373T>C ENSP00000500615.1:p.Cys791=
ENST00000676266.1:c.2379T>C MANE Select ENSP00000502585.1:p.Cys793=
ENST00000321897.9:c.2379T>C ENSP00000316092.5:p.Cys793=
ENST00000469358.5:n.2367T>C
ENST00000473916.1:n.90T>C
ENST00000476162.5:n.1166T>C
ENST00000477052.1:n.465T>C
ENST00000477288.5:n.4992T>C
ENST00000541562.5:c.2469T>C ENSP00000441000.1:p.Cys823=
ENST00000542001.5:c.2373T>C ENSP00000438200.2:p.Cys791=
ENST00000625423.2:c.1959T>C ENSP00000485818.1:p.Cys653=
NM_001167733.2:c.1959T>C NP_001161205.1:p.Cys653=
NM_001167734.1:c.2469T>C NP_001161206.1:p.Cys823=
NM_020442.5:c.2379T>C NP_065175.4:p.Cys793=
NM_001167733.3:c.1959T>C NP_001161205.1:p.Cys653=
NM_001167734.2:c.2469T>C NP_001161206.1:p.Cys823=
NM_020442.6:c.2379T>C MANE Select NP_065175.4:p.Cys793=