Canonical Allele Identifier: CA1709030
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 1157428
ClinVar RCV Id: RCV001500449
dbSNP Id: rs755370519
ExAC: 2:73118645 C / T
gnomAD v2: 2-73118645-C-T
gnomAD v3: 2-72891516-C-T
gnomAD v4: 2-72891516-C-T
COSMIC: COSM443182
MyVariant Identifiers: chr2:g.73118645C>T (hg19) chr2:g.72891516C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891516C>T , CM000664.2:g.72891516C>T GRCh38
NC_000002.11:g.73118645C>T , CM000664.1:g.73118645C>T GRCh37
NC_000002.10:g.72972153C>T NCBI36
NG_008234.1:g.9134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.765C>T MANE Select ENSP00000234454.5:p.His255=
ENST00000234454.5:c.765C>T ENSP00000234454.5:p.His255=
ENST00000498749.1:n.710C>T
NM_003124.4:c.765C>T NP_003115.1:p.His255=
NM_003124.5:c.765C>T MANE Select NP_003115.1:p.His255=
Search 100 bp 5'
Search 100 bp 3'