Canonical Allele Identifier: CA3706177

Gene: VARS2

Linked Data

• ClinVar Variation Id: 1168636
• ClinVar RCV Id: RCV001519044
• dbSNP Id: rs540706100
• ExAC: 6:30890652 CCTT / C
• gnomAD v2: 6-30890652-CCTT-C
• gnomAD v3: 6-30922875-CCTT-C
• gnomAD v4: 6-30922875-CCTT-C
• MyVariant Identifiers: chr6:g.30890653_30890655del (hg19) ; chr6:g.30922877_30922879del (hg38) ; chr6:g.30922876_30922878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922883_30922885del , CM000668.2:g.30922883_30922885del	GRCh38
NC_000006.11:g.30890660_30890662del , CM000668.1:g.30890660_30890662del	GRCh37
NC_000006.10:g.30998639_30998641del	NCBI36
NG_034224.1:g.13676_13678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2107-15_2107-13del	ENSP00000441000.2:n.2107-15_2107-13del
ENST00000672801.1:c.2101-15_2101-13del	ENSP00000500615.1:n.2101-15_2101-13del
ENST00000676266.1:c.2107-15_2107-13del MANE Select	ENSP00000502585.1:n.2107-15_2107-13del
ENST00000321897.9:c.2107-15_2107-13del	ENSP00000316092.5:n.2107-15_2107-13del
ENST00000469358.5:n.2095-15_2095-13del
ENST00000476162.5:n.894-15_894-13del
ENST00000477052.1:n.193-15_193-13del
ENST00000477288.5:n.4720-15_4720-13del
ENST00000541562.5:c.2197-15_2197-13del	ENSP00000441000.1:n.2197-15_2197-13del
ENST00000542001.5:c.2101-15_2101-13del	ENSP00000438200.2:n.2101-15_2101-13del
ENST00000625423.2:c.1687-15_1687-13del	ENSP00000485818.1:n.1687-15_1687-13del
NM_001167733.2:c.1687-15_1687-13del	NP_001161205.1:n.1687-15_1687-13del
NM_001167734.1:c.2197-15_2197-13del	NP_001161206.1:n.2197-15_2197-13del
NM_020442.5:c.2107-15_2107-13del	NP_065175.4:n.2107-15_2107-13del
NM_001167733.3:c.1687-15_1687-13del	NP_001161205.1:n.1687-15_1687-13del
NM_001167734.2:c.2197-15_2197-13del	NP_001161206.1:n.2197-15_2197-13del
NM_020442.6:c.2107-15_2107-13del MANE Select	NP_065175.4:n.2107-15_2107-13del