Canonical Allele Identifier: CA1708931

Gene: SPR

Linked Data

• ClinVar Variation Id: 863750
• ClinVar RCV Id: RCV001070794 ; RCV001195815 ; RCV001760052
• dbSNP Id: rs748740519
• ExAC: 2:73115446 C / G
• gnomAD v2: 2-73115446-C-G
• gnomAD v3: 2-72888317-C-G
• gnomAD v4: 2-72888317-C-G
• MyVariant Identifiers: chr2:g.73115446C>G (hg19) ; chr2:g.72888317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72888317C>G , CM000664.2:g.72888317C>G	GRCh38
NC_000002.11:g.73115446C>G , CM000664.1:g.73115446C>G	GRCh37
NC_000002.10:g.72968954C>G	NCBI36
NG_008234.1:g.5935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.308C>G MANE Select	ENSP00000234454.5:p.Ser103Cys
ENST00000234454.5:c.308C>G	ENSP00000234454.5:p.Ser103Cys
ENST00000498749.1:n.356-103C>G
NM_003124.4:c.308C>G	NP_003115.1:p.Ser103Cys
NM_003124.5:c.308C>G MANE Select	NP_003115.1:p.Ser103Cys