Canonical Allele Identifier: CA1709035
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 1412099
ClinVar RCV Id: RCV001943126
dbSNP Id: rs148735171
ExAC: 2:73118662 A / G
gnomAD v2: 2-73118662-A-G
gnomAD v3: 2-72891533-A-G
gnomAD v4: 2-72891533-A-G
MyVariant Identifiers: chr2:g.73118662A>G (hg19) chr2:g.72891533A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891533A>G , CM000664.2:g.72891533A>G GRCh38
NC_000002.11:g.73118662A>G , CM000664.1:g.73118662A>G GRCh37
NC_000002.10:g.72972170A>G NCBI36
NG_008234.1:g.9151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.782A>G MANE Select ENSP00000234454.5:p.Lys261Arg
ENST00000234454.5:c.782A>G ENSP00000234454.5:p.Lys261Arg
ENST00000498749.1:n.727A>G
NM_003124.4:c.782A>G NP_003115.1:p.Lys261Arg
NM_003124.5:c.782A>G MANE Select NP_003115.1:p.Lys261Arg
Search 100 bp 5'
Search 100 bp 3'