Canonical Allele Identifier: CA10616132

Gene: SPR

Linked Data

• ClinVar Variation Id: 336988
• ClinVar RCV Id: RCV000337638 ; RCV003746514
• dbSNP Id: rs886056287
• gnomAD v3: 2-72887519-G-C
• gnomAD v4: 2-72887519-G-C
• MyVariant Identifiers: chr2:g.73114648G>C (hg19) ; chr2:g.72887519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72887519G>C , CM000664.2:g.72887519G>C	GRCh38
NC_000002.11:g.73114648G>C , CM000664.1:g.73114648G>C	GRCh37
NC_000002.10:g.72968156G>C	NCBI36
NG_008234.1:g.5137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.87G>C MANE Select	ENSP00000234454.5:p.Ser29=
ENST00000234454.5:c.87G>C	ENSP00000234454.5:p.Ser29=
ENST00000498749.1:n.138G>C
NM_003124.4:c.87G>C	NP_003115.1:p.Ser29=
NM_003124.5:c.87G>C MANE Select	NP_003115.1:p.Ser29=