Canonical Allele Identifier: CA136811845

Gene: VARS2

Linked Data

• dbSNP Id: rs1039026139
• gnomAD v4: 6-30923289-G-A
• MyVariant Identifiers: chr6:g.30891066G>A (hg19) ; chr6:g.30923289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923289G>A , CM000668.2:g.30923289G>A	GRCh38
NC_000006.11:g.30891066G>A , CM000668.1:g.30891066G>A	GRCh37
NC_000006.10:g.30999045G>A	NCBI36
NG_034224.1:g.14082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2313+58G>A	ENSP00000441000.2:n.2313+58G>A
ENST00000672801.1:c.2307+58G>A	ENSP00000500615.1:n.2307+58G>A
ENST00000676266.1:c.2313+58G>A MANE Select	ENSP00000502585.1:n.2313+58G>A
ENST00000321897.9:c.2313+58G>A	ENSP00000316092.5:n.2313+58G>A
ENST00000469358.5:n.2301+58G>A
ENST00000473916.1:n.24+58G>A
ENST00000476162.5:n.1100+58G>A
ENST00000477052.1:n.399+58G>A
ENST00000477288.5:n.4926+58G>A
ENST00000541562.5:c.2403+58G>A	ENSP00000441000.1:n.2403+58G>A
ENST00000542001.5:c.2307+58G>A	ENSP00000438200.2:n.2307+58G>A
ENST00000625423.2:c.1893+58G>A	ENSP00000485818.1:n.1893+58G>A
NM_001167733.2:c.1893+58G>A	NP_001161205.1:n.1893+58G>A
NM_001167734.1:c.2403+58G>A	NP_001161206.1:n.2403+58G>A
NM_020442.5:c.2313+58G>A	NP_065175.4:n.2313+58G>A
NM_001167733.3:c.1893+58G>A	NP_001161205.1:n.1893+58G>A
NM_001167734.2:c.2403+58G>A	NP_001161206.1:n.2403+58G>A
NM_020442.6:c.2313+58G>A MANE Select	NP_065175.4:n.2313+58G>A