Canonical Allele Identifier: CA426703718
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2694158
ClinVar RCV Id: RCV003586465
MyVariant Identifiers: chr2:g.73118642C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891513C>T , CM000664.2:g.72891513C>T GRCh38
NC_000002.11:g.73118642C>T , CM000664.1:g.73118642C>T GRCh37
NC_000002.10:g.72972150C>T NCBI36
NG_008234.1:g.9131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.762C>T MANE Select ENSP00000234454.5:p.Ala254=
ENST00000234454.5:c.762C>T ENSP00000234454.5:p.Ala254=
ENST00000498749.1:n.707C>T
NM_003124.4:c.762C>T NP_003115.1:p.Ala254=
NM_003124.5:c.762C>T MANE Select NP_003115.1:p.Ala254=
Search 100 bp 5'
Search 100 bp 3'