Canonical Allele Identifier: CA3705539

Gene: VARS2

Linked Data

• ClinVar Variation Id: 516755
• ClinVar RCV Id: RCV001719121
• dbSNP Id: rs367960344
• ExAC: 6:30883017 A / G
• gnomAD v2: 6-30883017-A-G
• gnomAD v3: 6-30915240-A-G
• gnomAD v4: 6-30915240-A-G
• MyVariant Identifiers: chr6:g.30883017A>G (hg19) ; chr6:g.30915240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30915240A>G , CM000668.2:g.30915240A>G	GRCh38
NC_000006.11:g.30883017A>G , CM000668.1:g.30883017A>G	GRCh37
NC_000006.10:g.30990996A>G	NCBI36
NG_034224.1:g.6033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.283+3A>G	ENSP00000441000.2:n.283+3A>G
ENST00000672801.1:c.283+3A>G	ENSP00000500615.1:n.283+3A>G
ENST00000676266.1:c.283+3A>G MANE Select	ENSP00000502585.1:n.283+3A>G
ENST00000321897.9:c.283+3A>G	ENSP00000316092.5:n.283+3A>G
ENST00000421263.1:c.283+3A>G	ENSP00000416390.1:n.283+3A>G
ENST00000428017.5:c.283+3A>G	ENSP00000403749.1:n.283+3A>G
ENST00000467717.5:n.161+3A>G
ENST00000477288.5:n.2871+3A>G
ENST00000541562.5:c.373+3A>G	ENSP00000441000.1:n.373+3A>G
ENST00000542001.5:c.283+3A>G	ENSP00000438200.2:n.283+3A>G
ENST00000625423.2:c.-138+3A>G	ENSP00000485818.1:n.-138+3A>G
NM_001167733.2:c.-138+3A>G	NP_001161205.1:n.-138+3A>G
NM_001167734.1:c.373+3A>G	NP_001161206.1:n.373+3A>G
NM_020442.5:c.283+3A>G	NP_065175.4:n.283+3A>G
NM_001167733.3:c.-138+3A>G	NP_001161205.1:n.-138+3A>G
NM_001167734.2:c.373+3A>G	NP_001161206.1:n.373+3A>G
NM_020442.6:c.283+3A>G MANE Select	NP_065175.4:n.283+3A>G