Canonical Allele Identifier: CA1708946
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 336991
ClinVar RCV Id: RCV000354627 RCV001216522 RCV003884497
dbSNP Id: rs755878397
ExAC: 2:73115518 A / G
gnomAD v2: 2-73115518-A-G
gnomAD v3: 2-72888389-A-G
gnomAD v4: 2-72888389-A-G
MyVariant Identifiers: chr2:g.73115518A>G (hg19) chr2:g.72888389A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72888389A>G , CM000664.2:g.72888389A>G GRCh38
NC_000002.11:g.73115518A>G , CM000664.1:g.73115518A>G GRCh37
NC_000002.10:g.72969026A>G NCBI36
NG_008234.1:g.6007A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.380A>G MANE Select ENSP00000234454.5:p.Asn127Ser
ENST00000234454.5:c.380A>G ENSP00000234454.5:p.Asn127Ser
ENST00000498749.1:n.356-31A>G
NM_003124.4:c.380A>G NP_003115.1:p.Asn127Ser
NM_003124.5:c.380A>G MANE Select NP_003115.1:p.Asn127Ser
Search 100 bp 5'
Search 100 bp 3'