Canonical Allele Identifier: CA1708942
Gene: SPR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.72888378C>T
GRCh37 chr2:g.73115507C>T
gnomAD v2:
2:73115507 C / T
gnomAD v3:
2:72888378 C / T
gnomAD v4:
chr2-72888378-C-T
Joint Max Group AF 0.00038055 (NFE)
Genomes Max Group AF 0.00025541 (NFE)
Exomes Max Group AF 0.00038225 (NFE)
ClinVar RCV:
RCV000297483
RCV000461424
ClinVar Variation:
336990
dbSNP:
146349901
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72888378C>T , CM000664.2:g.72888378C>T GRCh38
NC_000002.11:g.73115507C>T , CM000664.1:g.73115507C>T GRCh37
NC_000002.10:g.72969015C>T NCBI36
NG_008234.1:g.5996C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.369C>T MANE Select ENSP00000234454.5:p.Tyr123=
ENST00000234454.5:c.369C>T ENSP00000234454.5:p.Tyr123=
ENST00000498749.1:n.356-42C>T
NM_003124.4:c.369C>T NP_003115.1:p.Tyr123=
NM_003124.5:c.369C>T MANE Select NP_003115.1:p.Tyr123=
Search 100 bp 5'
Search 100 bp 3'