Canonical Allele Identifier: CA566687714

Gene: VARS2

Linked Data

• dbSNP Id: rs1395871984
• gnomAD v2: 6-30891058-G-A
• gnomAD v3: 6-30923281-G-A
• gnomAD v4: 6-30923281-G-A
• MyVariant Identifiers: chr6:g.30891058G>A (hg19) ; chr6:g.30923281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923281G>A , CM000668.2:g.30923281G>A	GRCh38
NC_000006.11:g.30891058G>A , CM000668.1:g.30891058G>A	GRCh37
NC_000006.10:g.30999037G>A	NCBI36
NG_034224.1:g.14074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2313+50G>A	ENSP00000441000.2:n.2313+50G>A
ENST00000672801.1:c.2307+50G>A	ENSP00000500615.1:n.2307+50G>A
ENST00000676266.1:c.2313+50G>A MANE Select	ENSP00000502585.1:n.2313+50G>A
ENST00000321897.9:c.2313+50G>A	ENSP00000316092.5:n.2313+50G>A
ENST00000469358.5:n.2301+50G>A
ENST00000473916.1:n.24+50G>A
ENST00000476162.5:n.1100+50G>A
ENST00000477052.1:n.399+50G>A
ENST00000477288.5:n.4926+50G>A
ENST00000541562.5:c.2403+50G>A	ENSP00000441000.1:n.2403+50G>A
ENST00000542001.5:c.2307+50G>A	ENSP00000438200.2:n.2307+50G>A
ENST00000625423.2:c.1893+50G>A	ENSP00000485818.1:n.1893+50G>A
NM_001167733.2:c.1893+50G>A	NP_001161205.1:n.1893+50G>A
NM_001167734.1:c.2403+50G>A	NP_001161206.1:n.2403+50G>A
NM_020442.5:c.2313+50G>A	NP_065175.4:n.2313+50G>A
NM_001167733.3:c.1893+50G>A	NP_001161205.1:n.1893+50G>A
NM_001167734.2:c.2403+50G>A	NP_001161206.1:n.2403+50G>A
NM_020442.6:c.2313+50G>A MANE Select	NP_065175.4:n.2313+50G>A