Canonical Allele Identifier: CA823854853

Gene: VARS2

Linked Data

• dbSNP Id: rs1425732559
• gnomAD v3: 6-30923114-GCAC-G
• gnomAD v4: 6-30923114-GCAC-G
• MyVariant Identifiers: chr6:g.30890892_30890894del (hg19) ; chr6:g.30923115_30923117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923116_30923118del , CM000668.2:g.30923116_30923118del	GRCh38
NC_000006.11:g.30890893_30890895del , CM000668.1:g.30890893_30890895del	GRCh37
NC_000006.10:g.30998872_30998874del	NCBI36
NG_034224.1:g.13909_13911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2198_2200del	ENSP00000441000.2:p.His733del
ENST00000672801.1:c.2192_2194del	ENSP00000500615.1:p.His731del
ENST00000676266.1:c.2198_2200del MANE Select	ENSP00000502585.1:p.His733del
ENST00000321897.9:c.2198_2200del	ENSP00000316092.5:p.His733del
ENST00000469358.5:n.2186_2188del
ENST00000476162.5:n.985_987del
ENST00000477052.1:n.284_286del
ENST00000477288.5:n.4811_4813del
ENST00000541562.5:c.2288_2290del	ENSP00000441000.1:p.His763del
ENST00000542001.5:c.2192_2194del	ENSP00000438200.2:p.His731del
ENST00000625423.2:c.1778_1780del	ENSP00000485818.1:p.His593del
NM_001167733.2:c.1778_1780del	NP_001161205.1:p.His593del
NM_001167734.1:c.2288_2290del	NP_001161206.1:p.His763del
NM_020442.5:c.2198_2200del	NP_065175.4:p.His733del
NM_001167733.3:c.1778_1780del	NP_001161205.1:p.His593del
NM_001167734.2:c.2288_2290del	NP_001161206.1:p.His763del
NM_020442.6:c.2198_2200del MANE Select	NP_065175.4:p.His733del