Canonical Allele Identifier: CA1972458

Gene: SP9

Linked Data

• ClinVar Variation Id: 770876
• ClinVar RCV Id: RCV000950089 ; RCV004029799
• dbSNP Id: rs368984751
• ExAC: 2:175202199 A / G
• gnomAD v2: 2-175202199-A-G
• gnomAD v3: 2-174337471-A-G
• gnomAD v4: 2-174337471-A-G
• MyVariant Identifiers: chr2:g.175202199A>G (hg19) ; chr2:g.175202199_175202202delinsGGCG (hg19) ; chr2:g.175202199_175202214delinsGGCGGCGGCGGCGGCG (hg19) ; chr2:g.174337471A>G (hg38) ; chr2:g.174337471_174337486delinsGGCGGCGGCGGCGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174337471A>G , CM000664.2:g.174337471A>G	GRCh38
NC_000002.11:g.175202199A>G , CM000664.1:g.175202199A>G	GRCh37
NC_000002.10:g.174910445A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394967.3:c.1386A>G MANE Select	ENSP00000378418.2:p.Ala462=
ENST00000394967.2:c.1386A>G	ENSP00000378418.2:p.Ala462=
NM_001145250.1:c.1386A>G	NP_001138722.1:p.Ala462=
XR_922825.1:n.1519A>G
XR_922826.1:n.1519A>G
XR_922827.1:n.1519A>G
NM_001145250.2:c.1386A>G MANE Select	NP_001138722.1:p.Ala462=