Canonical Allele Identifier: CA347231532
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 661563
ClinVar RCV Id: RCV000819004
dbSNP Id: rs1573882342
MyVariant Identifiers: chr2:g.73115536G>T (hg19) chr2:g.72888407G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72888407G>T , CM000664.2:g.72888407G>T GRCh38
NC_000002.11:g.73115536G>T , CM000664.1:g.73115536G>T GRCh37
NC_000002.10:g.72969044G>T NCBI36
NG_008234.1:g.6025G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234454.6:c.398G>T MANE Select ENSP00000234454.5:p.Cys133Phe
ENST00000234454.5:c.398G>T ENSP00000234454.5:p.Cys133Phe
ENST00000498749.1:n.356-13G>T
NM_003124.4:c.398G>T NP_003115.1:p.Cys133Phe
NM_003124.5:c.398G>T MANE Select NP_003115.1:p.Cys133Phe
Search 100 bp 5'
Search 100 bp 3'