Canonical Allele Identifier: CA658653749
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 444507
ClinVar RCV Id: RCV000512966
dbSNP Id: rs1553498611
MyVariant Identifiers: chr2:g.73118661_73118664del (hg19) chr2:g.72891532_72891535del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891534_72891537del , CM000664.2:g.72891534_72891537del GRCh38
NC_000002.11:g.73118663_73118666del , CM000664.1:g.73118663_73118666del GRCh37
NC_000002.10:g.72972171_72972174del NCBI36
NG_008234.1:g.9152_9155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.783_786del MANE Select ENSP00000234454.5:p.Ter262ProextTer7
ENST00000234454.5:c.783_786del ENSP00000234454.5:p.Ter262ProextTer7
ENST00000498749.1:n.728_731del
NM_003124.4:c.783_786del NP_003115.1:p.Ter262ProextTer7
NM_003124.5:c.783_786del MANE Select NP_003115.1:p.Ter262ProextTer7
Search 100 bp 5'
Search 100 bp 3'