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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1709015
Gene: SPR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235551
ClinVar RCV Id:
RCV000224347
RCV000662027
dbSNP Id:
rs779204655
ExAC:
2:73118535 C / T
gnomAD v2:
2-73118535-C-T
gnomAD v3:
2-72891406-C-T
gnomAD v4:
2-72891406-C-T
COSMIC:
COSM1022727
MyVariant Identifiers:
chr2:g.73118535C>T (hg19)
chr2:g.72891406C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.72891406C>T , CM000664.2:g.72891406C>T
GRCh38
NC_000002.11:g.73118535C>T , CM000664.1:g.73118535C>T
GRCh37
NC_000002.10:g.72972043C>T
NCBI36
NG_008234.1:g.9024C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000234454.6:c.655C>T
MANE Select
ENSP00000234454.5:p.Arg219Ter
ENST00000234454.5:c.655C>T
ENSP00000234454.5:p.Arg219Ter
ENST00000498749.1:n.600C>T
NM_003124.4:c.655C>T
NP_003115.1:p.Arg219Ter
NM_003124.5:c.655C>T
MANE Select
NP_003115.1:p.Arg219Ter
Search 100 bp 5'
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