Canonical Allele Identifier: CA136804258

Gene: VARS2

Linked Data

• ClinVar Variation Id: 500686
• ClinVar RCV Id: RCV000595156
• dbSNP Id: rs1017764354
• gnomAD v2: 6-30884027-G-C
• gnomAD v3: 6-30916250-G-C
• gnomAD v4: 6-30916250-G-C
• MyVariant Identifiers: chr6:g.30884027G>C (hg19) ; chr6:g.30916250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30916250G>C , CM000668.2:g.30916250G>C	GRCh38
NC_000006.11:g.30884027G>C , CM000668.1:g.30884027G>C	GRCh37
NC_000006.10:g.30992006G>C	NCBI36
NG_034224.1:g.7043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.671+1G>C	ENSP00000441000.2:n.671+1G>C
ENST00000672801.1:c.671+1G>C	ENSP00000500615.1:n.671+1G>C
ENST00000676266.1:c.671+1G>C MANE Select	ENSP00000502585.1:n.671+1G>C
ENST00000321897.9:c.671+1G>C	ENSP00000316092.5:n.671+1G>C
ENST00000428017.5:c.671+1G>C	ENSP00000403749.1:n.671+1G>C
ENST00000467717.5:n.549+1G>C
ENST00000477288.5:n.3259+1G>C
ENST00000541562.5:c.761+1G>C	ENSP00000441000.1:n.761+1G>C
ENST00000542001.5:c.671+1G>C	ENSP00000438200.2:n.671+1G>C
ENST00000625423.2:c.251+1G>C	ENSP00000485818.1:n.251+1G>C
NM_001167733.2:c.251+1G>C	NP_001161205.1:n.251+1G>C
NM_001167734.1:c.761+1G>C	NP_001161206.1:n.761+1G>C
NM_020442.5:c.671+1G>C	NP_065175.4:n.671+1G>C
NM_001167733.3:c.251+1G>C	NP_001161205.1:n.251+1G>C
NM_001167734.2:c.761+1G>C	NP_001161206.1:n.761+1G>C
NM_020442.6:c.671+1G>C MANE Select	NP_065175.4:n.671+1G>C