Canonical Allele Identifier: CA1708885
Gene: SPR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.72887420G>A
GRCh37 chr2:g.73114549G>A
gnomAD v2:
2:73114549 G / A
gnomAD v3:
2:72887420 G / A
gnomAD v4:
chr2-72887420-G-A
Joint Max Group AF 0.00003077 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.0000288 (NFE)
ClinVar Allele:
27981
ClinVar RCV:
RCV000013805
ClinVar Variation:
12942
dbSNP:
750423023
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72887420G>A , CM000664.2:g.72887420G>A GRCh38
NC_000002.11:g.73114549G>A , CM000664.1:g.73114549G>A GRCh37
NC_000002.10:g.72968057G>A NCBI36
NG_008234.1:g.5038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.-13G>A MANE Select ENSP00000234454.5:n.-13G>A
ENST00000234454.5:c.-13G>A ENSP00000234454.5:n.-13G>A
ENST00000498749.1:n.39G>A
NM_003124.4:c.-13G>A NP_003115.1:n.-13G>A
NM_003124.5:c.-13G>A MANE Select NP_003115.1:n.-13G>A
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