Canonical Allele Identifier: CA1709023
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 660797
ClinVar RCV Id: RCV000818076 RCV001138219 RCV004028939
dbSNP Id: rs371904378
ExAC: 2:73118586 G / A
gnomAD v2: 2-73118586-G-A
gnomAD v3: 2-72891457-G-A
gnomAD v4: 2-72891457-G-A
MyVariant Identifiers: chr2:g.73118586G>A (hg19) chr2:g.72891457G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891457G>A , CM000664.2:g.72891457G>A GRCh38
NC_000002.11:g.73118586G>A , CM000664.1:g.73118586G>A GRCh37
NC_000002.10:g.72972094G>A NCBI36
NG_008234.1:g.9075G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.706G>A MANE Select ENSP00000234454.5:p.Val236Met
ENST00000234454.5:c.706G>A ENSP00000234454.5:p.Val236Met
ENST00000498749.1:n.651G>A
NM_003124.4:c.706G>A NP_003115.1:p.Val236Met
NM_003124.5:c.706G>A MANE Select NP_003115.1:p.Val236Met
Search 100 bp 5'
Search 100 bp 3'