Canonical Allele Identifier: CA1709040
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs768566838
ExAC: 2:73118691 C / T
gnomAD v2: 2-73118691-C-T
gnomAD v3: 2-72891562-C-T
gnomAD v4: 2-72891562-C-T
MyVariant Identifiers: chr2:g.73118691C>T (hg19) chr2:g.72891562C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891562C>T , CM000664.2:g.72891562C>T GRCh38
NC_000002.11:g.73118691C>T , CM000664.1:g.73118691C>T GRCh37
NC_000002.10:g.72972199C>T NCBI36
NG_008234.1:g.9180C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*25C>T MANE Select ENSP00000234454.5:n.*25C>T
ENST00000234454.5:c.*25C>T ENSP00000234454.5:n.*25C>T
ENST00000498749.1:n.756C>T
NM_003124.4:c.*25C>T NP_003115.1:n.*25C>T
NM_003124.5:c.*25C>T MANE Select NP_003115.1:n.*25C>T
Search 100 bp 5'
Search 100 bp 3'