Canonical Allele Identifier: CA3706178

Gene: VARS2

Linked Data

• dbSNP Id: rs752867865
• ExAC: 6:30890652 C / G
• gnomAD v2: 6-30890652-C-G
• gnomAD v3: 6-30922875-C-G
• gnomAD v4: 6-30922875-C-G
• MyVariant Identifiers: chr6:g.30890652C>G (hg19) ; chr6:g.30890652_30890655delinsGCTT (hg19) ; chr6:g.30922875C>G (hg38) ; chr6:g.30922875_30922878delinsGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922875C>G , CM000668.2:g.30922875C>G	GRCh38
NC_000006.11:g.30890652C>G , CM000668.1:g.30890652C>G	GRCh37
NC_000006.10:g.30998631C>G	NCBI36
NG_034224.1:g.13668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2107-23C>G	ENSP00000441000.2:n.2107-23C>G
ENST00000672801.1:c.2101-23C>G	ENSP00000500615.1:n.2101-23C>G
ENST00000676266.1:c.2107-23C>G MANE Select	ENSP00000502585.1:n.2107-23C>G
ENST00000321897.9:c.2107-23C>G	ENSP00000316092.5:n.2107-23C>G
ENST00000469358.5:n.2095-23C>G
ENST00000476162.5:n.894-23C>G
ENST00000477052.1:n.193-23C>G
ENST00000477288.5:n.4720-23C>G
ENST00000541562.5:c.2197-23C>G	ENSP00000441000.1:n.2197-23C>G
ENST00000542001.5:c.2101-23C>G	ENSP00000438200.2:n.2101-23C>G
ENST00000625423.2:c.1687-23C>G	ENSP00000485818.1:n.1687-23C>G
NM_001167733.2:c.1687-23C>G	NP_001161205.1:n.1687-23C>G
NM_001167734.1:c.2197-23C>G	NP_001161206.1:n.2197-23C>G
NM_020442.5:c.2107-23C>G	NP_065175.4:n.2107-23C>G
NM_001167733.3:c.1687-23C>G	NP_001161205.1:n.1687-23C>G
NM_001167734.2:c.2197-23C>G	NP_001161206.1:n.2197-23C>G
NM_020442.6:c.2107-23C>G MANE Select	NP_065175.4:n.2107-23C>G