Canonical Allele Identifier: CA533656139
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs1415702394
gnomAD v2: 2-73118795-C-T
gnomAD v3: 2-72891666-C-T
gnomAD v4: 2-72891666-C-T
MyVariant Identifiers: chr2:g.73118795C>T (hg19) chr2:g.72891666C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891666C>T , CM000664.2:g.72891666C>T GRCh38
NC_000002.11:g.73118795C>T , CM000664.1:g.73118795C>T GRCh37
NC_000002.10:g.72972303C>T NCBI36
NG_008234.1:g.9284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*129C>T MANE Select ENSP00000234454.5:n.*129C>T
ENST00000234454.5:c.*129C>T ENSP00000234454.5:n.*129C>T
ENST00000498749.1:n.860C>T
NM_003124.4:c.*129C>T NP_003115.1:n.*129C>T
NM_003124.5:c.*129C>T MANE Select NP_003115.1:n.*129C>T
Search 100 bp 5'
Search 100 bp 3'