Canonical Allele Identifier: CA823855001

Gene: VARS2

Linked Data

• dbSNP Id: rs1222919640
• MyVariant Identifiers: chr6:g.30890967del (hg19) ; chr6:g.30923190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923191del , CM000668.2:g.30923191del	GRCh38
NC_000006.11:g.30890968del , CM000668.1:g.30890968del	GRCh37
NC_000006.10:g.30998947del	NCBI36
NG_034224.1:g.13984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2273del	ENSP00000441000.2:p.Asn758MetfsTer3
ENST00000672801.1:c.2267del	ENSP00000500615.1:p.Asn756MetfsTer3
ENST00000676266.1:c.2273del MANE Select	ENSP00000502585.1:p.Asn758MetfsTer3
ENST00000321897.9:c.2273del	ENSP00000316092.5:p.Asn758MetfsTer3
ENST00000469358.5:n.2261del
ENST00000476162.5:n.1060del
ENST00000477052.1:n.359del
ENST00000477288.5:n.4886del
ENST00000541562.5:c.2363del	ENSP00000441000.1:p.Asn788MetfsTer3
ENST00000542001.5:c.2267del	ENSP00000438200.2:p.Asn756MetfsTer3
ENST00000625423.2:c.1853del	ENSP00000485818.1:p.Asn618MetfsTer3
NM_001167733.2:c.1853del	NP_001161205.1:p.Asn618MetfsTer3
NM_001167734.1:c.2363del	NP_001161206.1:p.Asn788MetfsTer3
NM_020442.5:c.2273del	NP_065175.4:p.Asn758MetfsTer3
NM_001167733.3:c.1853del	NP_001161205.1:p.Asn618MetfsTer3
NM_001167734.2:c.2363del	NP_001161206.1:p.Asn788MetfsTer3
NM_020442.6:c.2273del MANE Select	NP_065175.4:p.Asn758MetfsTer3