Canonical Allele Identifier: CA1708913

Gene: SPR

Linked Data

• ClinVar Variation Id: 566802
• ClinVar RCV Id: RCV000686715 ; RCV001724135 ; RCV001573189
• dbSNP Id: rs779655618
• ExAC: 2:73114768 C / G
• gnomAD v2: 2-73114768-C-G
• gnomAD v3: 2-72887639-C-G
• gnomAD v4: 2-72887639-C-G
• MyVariant Identifiers: chr2:g.73114768C>G (hg19) ; chr2:g.72887639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72887639C>G , CM000664.2:g.72887639C>G	GRCh38
NC_000002.11:g.73114768C>G , CM000664.1:g.73114768C>G	GRCh37
NC_000002.10:g.72968276C>G	NCBI36
NG_008234.1:g.5257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.207C>G MANE Select	ENSP00000234454.5:p.Asp69Glu
ENST00000234454.5:c.207C>G	ENSP00000234454.5:p.Asp69Glu
ENST00000498749.1:n.258C>G
NM_003124.4:c.207C>G	NP_003115.1:p.Asp69Glu
NM_003124.5:c.207C>G MANE Select	NP_003115.1:p.Asp69Glu