Canonical Allele Identifier: CA129898
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 31917
ClinVar RCV Id: RCV000024605
dbSNP Id: rs387907200
gnomAD v4: 2-72887736-G-T
MyVariant Identifiers: chr2:g.73114865G>T (hg19) chr2:g.72887736G>T (hg38)
PubMed: PMID:21431957
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72887736G>T , CM000664.2:g.72887736G>T GRCh38
NC_000002.11:g.73114865G>T , CM000664.1:g.73114865G>T GRCh37
NC_000002.10:g.72968373G>T NCBI36
NG_008234.1:g.5354G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234454.6:c.304G>T MANE Select ENSP00000234454.5:p.Gly102Cys
ENST00000234454.5:c.304G>T ENSP00000234454.5:p.Gly102Cys
ENST00000498749.1:n.355G>T
NM_003124.4:c.304G>T NP_003115.1:p.Gly102Cys
NM_003124.5:c.304G>T MANE Select NP_003115.1:p.Gly102Cys
Search 100 bp 5'
Search 100 bp 3'