Canonical Allele Identifier: CA3706267

Gene: VARS2

Linked Data

• ClinVar Variation Id: 2737259
• ClinVar RCV Id: RCV003560258
• dbSNP Id: rs201511329
• ExAC: 6:30891264 C / A
• gnomAD v2: 6-30891264-C-A
• gnomAD v3: 6-30923487-C-A
• gnomAD v4: 6-30923487-C-A
• MyVariant Identifiers: chr6:g.30891264C>A (hg19) ; chr6:g.30923487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923487C>A , CM000668.2:g.30923487C>A	GRCh38
NC_000006.11:g.30891264C>A , CM000668.1:g.30891264C>A	GRCh37
NC_000006.10:g.30999243C>A	NCBI36
NG_034224.1:g.14280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2448C>A	ENSP00000441000.2:p.Asn816Lys
ENST00000672801.1:c.2442C>A	ENSP00000500615.1:p.Asn814Lys
ENST00000676266.1:c.2448C>A MANE Select	ENSP00000502585.1:p.Asn816Lys
ENST00000321897.9:c.2448C>A	ENSP00000316092.5:p.Asn816Lys
ENST00000469358.5:n.2436C>A
ENST00000473916.1:n.159C>A
ENST00000476162.5:n.1235C>A
ENST00000477052.1:n.534C>A
ENST00000477288.5:n.5061C>A
ENST00000541562.5:c.2538C>A	ENSP00000441000.1:p.Asn846Lys
ENST00000542001.5:c.2442C>A	ENSP00000438200.2:p.Asn814Lys
ENST00000625423.2:c.2028C>A	ENSP00000485818.1:p.Asn676Lys
NM_001167733.2:c.2028C>A	NP_001161205.1:p.Asn676Lys
NM_001167734.1:c.2538C>A	NP_001161206.1:p.Asn846Lys
NM_020442.5:c.2448C>A	NP_065175.4:p.Asn816Lys
NM_001167733.3:c.2028C>A	NP_001161205.1:p.Asn676Lys
NM_001167734.2:c.2538C>A	NP_001161206.1:p.Asn846Lys
NM_020442.6:c.2448C>A MANE Select	NP_065175.4:p.Asn816Lys