Canonical Allele Identifier: CA1618928559

Gene: VARS2

Linked Data

• dbSNP Id: rs1794655433
• gnomAD v4: 6-30923380-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923382dup , CM000668.2:g.30923382dup	GRCh38
NC_000006.11:g.30891159dup , CM000668.1:g.30891159dup	GRCh37
NC_000006.10:g.30999138dup	NCBI36
NG_034224.1:g.14175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2343dup	ENSP00000441000.2:p.Ile782AspfsTer13
ENST00000672801.1:c.2337dup	ENSP00000500615.1:p.Ile780AspfsTer13
ENST00000676266.1:c.2343dup MANE Select	ENSP00000502585.1:p.Ile782AspfsTer13
ENST00000321897.9:c.2343dup	ENSP00000316092.5:p.Ile782AspfsTer13
ENST00000469358.5:n.2331dup
ENST00000473916.1:n.54dup
ENST00000476162.5:n.1130dup
ENST00000477052.1:n.429dup
ENST00000477288.5:n.4956dup
ENST00000541562.5:c.2433dup	ENSP00000441000.1:p.Ile812AspfsTer13
ENST00000542001.5:c.2337dup	ENSP00000438200.2:p.Ile780AspfsTer13
ENST00000625423.2:c.1923dup	ENSP00000485818.1:p.Ile642AspfsTer13
NM_001167733.2:c.1923dup	NP_001161205.1:p.Ile642AspfsTer13
NM_001167734.1:c.2433dup	NP_001161206.1:p.Ile812AspfsTer13
NM_020442.5:c.2343dup	NP_065175.4:p.Ile782AspfsTer13
NM_001167733.3:c.1923dup	NP_001161205.1:p.Ile642AspfsTer13
NM_001167734.2:c.2433dup	NP_001161206.1:p.Ile812AspfsTer13
NM_020442.6:c.2343dup MANE Select	NP_065175.4:p.Ile782AspfsTer13