Canonical Allele Identifier: CA1709031
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 1317114
ClinVar RCV Id: RCV001758986 RCV001868702
dbSNP Id: rs765373242
ExAC: 2:73118646 G / A
gnomAD v2: 2-73118646-G-A
gnomAD v3: 2-72891517-G-A
gnomAD v4: 2-72891517-G-A
MyVariant Identifiers: chr2:g.73118646G>A (hg19) chr2:g.72891517G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891517G>A , CM000664.2:g.72891517G>A GRCh38
NC_000002.11:g.73118646G>A , CM000664.1:g.73118646G>A GRCh37
NC_000002.10:g.72972154G>A NCBI36
NG_008234.1:g.9135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.766G>A MANE Select ENSP00000234454.5:p.Val256Met
ENST00000234454.5:c.766G>A ENSP00000234454.5:p.Val256Met
ENST00000498749.1:n.711G>A
NM_003124.4:c.766G>A NP_003115.1:p.Val256Met
NM_003124.5:c.766G>A MANE Select NP_003115.1:p.Val256Met
Search 100 bp 5'
Search 100 bp 3'