Canonical Allele Identifier: CA363175823

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923485-A-G
• MyVariant Identifiers: chr6:g.30891262A>G (hg19) ; chr6:g.30923485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923485A>G , CM000668.2:g.30923485A>G	GRCh38
NC_000006.11:g.30891262A>G , CM000668.1:g.30891262A>G	GRCh37
NC_000006.10:g.30999241A>G	NCBI36
NG_034224.1:g.14278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2446A>G	ENSP00000441000.2:p.Asn816Asp
ENST00000672801.1:c.2440A>G	ENSP00000500615.1:p.Asn814Asp
ENST00000676266.1:c.2446A>G MANE Select	ENSP00000502585.1:p.Asn816Asp
ENST00000321897.9:c.2446A>G	ENSP00000316092.5:p.Asn816Asp
ENST00000469358.5:n.2434A>G
ENST00000473916.1:n.157A>G
ENST00000476162.5:n.1233A>G
ENST00000477052.1:n.532A>G
ENST00000477288.5:n.5059A>G
ENST00000541562.5:c.2536A>G	ENSP00000441000.1:p.Asn846Asp
ENST00000542001.5:c.2440A>G	ENSP00000438200.2:p.Asn814Asp
ENST00000625423.2:c.2026A>G	ENSP00000485818.1:p.Asn676Asp
NM_001167733.2:c.2026A>G	NP_001161205.1:p.Asn676Asp
NM_001167734.1:c.2536A>G	NP_001161206.1:p.Asn846Asp
NM_020442.5:c.2446A>G	NP_065175.4:p.Asn816Asp
NM_001167733.3:c.2026A>G	NP_001161205.1:p.Asn676Asp
NM_001167734.2:c.2536A>G	NP_001161206.1:p.Asn846Asp
NM_020442.6:c.2446A>G MANE Select	NP_065175.4:p.Asn816Asp