Canonical Allele Identifier: CA426703724
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2966572
ClinVar RCV Id: RCV003828706
dbSNP Id: rs1171318027
gnomAD v2: 2-73118648-G-A
gnomAD v4: 2-72891519-G-A
MyVariant Identifiers: chr2:g.73118648G>A (hg19) chr2:g.72891519G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891519G>A , CM000664.2:g.72891519G>A GRCh38
NC_000002.11:g.73118648G>A , CM000664.1:g.73118648G>A GRCh37
NC_000002.10:g.72972156G>A NCBI36
NG_008234.1:g.9137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.768G>A MANE Select ENSP00000234454.5:p.Val256=
ENST00000234454.5:c.768G>A ENSP00000234454.5:p.Val256=
ENST00000498749.1:n.713G>A
NM_003124.4:c.768G>A NP_003115.1:p.Val256=
NM_003124.5:c.768G>A MANE Select NP_003115.1:p.Val256=
Search 100 bp 5'
Search 100 bp 3'