Canonical Allele Identifier: CA363175154

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923155-G-C
• MyVariant Identifiers: chr6:g.30890932G>C (hg19) ; chr6:g.30923155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923155G>C , CM000668.2:g.30923155G>C	GRCh38
NC_000006.11:g.30890932G>C , CM000668.1:g.30890932G>C	GRCh37
NC_000006.10:g.30998911G>C	NCBI36
NG_034224.1:g.13948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2237G>C	ENSP00000441000.2:p.Cys746Ser
ENST00000672801.1:c.2231G>C	ENSP00000500615.1:p.Cys744Ser
ENST00000676266.1:c.2237G>C MANE Select	ENSP00000502585.1:p.Cys746Ser
ENST00000321897.9:c.2237G>C	ENSP00000316092.5:p.Cys746Ser
ENST00000469358.5:n.2225G>C
ENST00000476162.5:n.1024G>C
ENST00000477052.1:n.323G>C
ENST00000477288.5:n.4850G>C
ENST00000541562.5:c.2327G>C	ENSP00000441000.1:p.Cys776Ser
ENST00000542001.5:c.2231G>C	ENSP00000438200.2:p.Cys744Ser
ENST00000625423.2:c.1817G>C	ENSP00000485818.1:p.Cys606Ser
NM_001167733.2:c.1817G>C	NP_001161205.1:p.Cys606Ser
NM_001167734.1:c.2327G>C	NP_001161206.1:p.Cys776Ser
NM_020442.5:c.2237G>C	NP_065175.4:p.Cys746Ser
NM_001167733.3:c.1817G>C	NP_001161205.1:p.Cys606Ser
NM_001167734.2:c.2327G>C	NP_001161206.1:p.Cys776Ser
NM_020442.6:c.2237G>C MANE Select	NP_065175.4:p.Cys746Ser