Canonical Allele Identifier: CA2677910197

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923407-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923410del , CM000668.2:g.30923410del	GRCh38
NC_000006.11:g.30891187del , CM000668.1:g.30891187del	GRCh37
NC_000006.10:g.30999166del	NCBI36
NG_034224.1:g.14203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2371del	ENSP00000441000.2:p.Gln791ArgfsTer?
ENST00000672801.1:c.2365del	ENSP00000500615.1:p.Gln789ArgfsTer?
ENST00000676266.1:c.2371del MANE Select	ENSP00000502585.1:p.Gln791ArgfsTer?
ENST00000321897.9:c.2371del	ENSP00000316092.5:p.Gln791ArgfsTer?
ENST00000469358.5:n.2359del
ENST00000473916.1:n.82del
ENST00000476162.5:n.1158del
ENST00000477052.1:n.457del
ENST00000477288.5:n.4984del
ENST00000541562.5:c.2461del	ENSP00000441000.1:p.Gln821ArgfsTer?
ENST00000542001.5:c.2365del	ENSP00000438200.2:p.Gln789ArgfsTer?
ENST00000625423.2:c.1951del	ENSP00000485818.1:p.Gln651ArgfsTer?
NM_001167733.2:c.1951del	NP_001161205.1:p.Gln651ArgfsTer?
NM_001167734.1:c.2461del	NP_001161206.1:p.Gln821ArgfsTer?
NM_020442.5:c.2371del	NP_065175.4:p.Gln791ArgfsTer?
NM_001167733.3:c.1951del	NP_001161205.1:p.Gln651ArgfsTer?
NM_001167734.2:c.2461del	NP_001161206.1:p.Gln821ArgfsTer?
NM_020442.6:c.2371del MANE Select	NP_065175.4:p.Gln791ArgfsTer?