Canonical Allele Identifier: CA2677910184

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923395-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923397dup , CM000668.2:g.30923397dup	GRCh38
NC_000006.11:g.30891174dup , CM000668.1:g.30891174dup	GRCh37
NC_000006.10:g.30999153dup	NCBI36
NG_034224.1:g.14190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2358dup	ENSP00000441000.2:p.Ala787CysfsTer8
ENST00000672801.1:c.2352dup	ENSP00000500615.1:p.Ala785CysfsTer8
ENST00000676266.1:c.2358dup MANE Select	ENSP00000502585.1:p.Ala787CysfsTer8
ENST00000321897.9:c.2358dup	ENSP00000316092.5:p.Ala787CysfsTer8
ENST00000469358.5:n.2346dup
ENST00000473916.1:n.69dup
ENST00000476162.5:n.1145dup
ENST00000477052.1:n.444dup
ENST00000477288.5:n.4971dup
ENST00000541562.5:c.2448dup	ENSP00000441000.1:p.Ala817CysfsTer8
ENST00000542001.5:c.2352dup	ENSP00000438200.2:p.Ala785CysfsTer8
ENST00000625423.2:c.1938dup	ENSP00000485818.1:p.Ala647CysfsTer8
NM_001167733.2:c.1938dup	NP_001161205.1:p.Ala647CysfsTer8
NM_001167734.1:c.2448dup	NP_001161206.1:p.Ala817CysfsTer8
NM_020442.5:c.2358dup	NP_065175.4:p.Ala787CysfsTer8
NM_001167733.3:c.1938dup	NP_001161205.1:p.Ala647CysfsTer8
NM_001167734.2:c.2448dup	NP_001161206.1:p.Ala817CysfsTer8
NM_020442.6:c.2358dup MANE Select	NP_065175.4:p.Ala787CysfsTer8