Canonical Allele Identifier: CA1709026
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2076498
ClinVar RCV Id: RCV002972347
dbSNP Id: rs767196765
ExAC: 2:73118601 C / T
gnomAD v2: 2-73118601-C-T
gnomAD v3: 2-72891472-C-T
gnomAD v4: 2-72891472-C-T
MyVariant Identifiers: chr2:g.73118601C>T (hg19) chr2:g.72891472C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891472C>T , CM000664.2:g.72891472C>T GRCh38
NC_000002.11:g.73118601C>T , CM000664.1:g.73118601C>T GRCh37
NC_000002.10:g.72972109C>T NCBI36
NG_008234.1:g.9090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.721C>T MANE Select ENSP00000234454.5:p.Leu241=
ENST00000234454.5:c.721C>T ENSP00000234454.5:p.Leu241=
ENST00000498749.1:n.666C>T
NM_003124.4:c.721C>T NP_003115.1:p.Leu241=
NM_003124.5:c.721C>T MANE Select NP_003115.1:p.Leu241=
Search 100 bp 5'
Search 100 bp 3'