Canonical Allele Identifier: CA1618928583

Gene: VARS2

Linked Data

• dbSNP Id: rs1794660039
• gnomAD v4: 6-30923437-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923441_30923442del , CM000668.2:g.30923441_30923442del	GRCh38
NC_000006.11:g.30891218_30891219del , CM000668.1:g.30891218_30891219del	GRCh37
NC_000006.10:g.30999197_30999198del	NCBI36
NG_034224.1:g.14234_14235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2402_2403del	ENSP00000441000.2:p.Glu801AlafsTer18
ENST00000672801.1:c.2396_2397del	ENSP00000500615.1:p.Glu799AlafsTer18
ENST00000676266.1:c.2402_2403del MANE Select	ENSP00000502585.1:p.Glu801AlafsTer18
ENST00000321897.9:c.2402_2403del	ENSP00000316092.5:p.Glu801AlafsTer18
ENST00000469358.5:n.2390_2391del
ENST00000473916.1:n.113_114del
ENST00000476162.5:n.1189_1190del
ENST00000477052.1:n.488_489del
ENST00000477288.5:n.5015_5016del
ENST00000541562.5:c.2492_2493del	ENSP00000441000.1:p.Glu831AlafsTer18
ENST00000542001.5:c.2396_2397del	ENSP00000438200.2:p.Glu799AlafsTer18
ENST00000625423.2:c.1982_1983del	ENSP00000485818.1:p.Glu661AlafsTer18
NM_001167733.2:c.1982_1983del	NP_001161205.1:p.Glu661AlafsTer18
NM_001167734.1:c.2492_2493del	NP_001161206.1:p.Glu831AlafsTer18
NM_020442.5:c.2402_2403del	NP_065175.4:p.Glu801AlafsTer18
NM_001167733.3:c.1982_1983del	NP_001161205.1:p.Glu661AlafsTer18
NM_001167734.2:c.2492_2493del	NP_001161206.1:p.Glu831AlafsTer18
NM_020442.6:c.2402_2403del MANE Select	NP_065175.4:p.Glu801AlafsTer18