Canonical Allele Identifier: CA1709037
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs746335387
ExAC: 2:73118673 G / GT
gnomAD v2: 2-73118673-G-GT
gnomAD v3: 2-72891544-G-GT
gnomAD v4: 2-72891544-G-GT
MyVariant Identifiers: chr2:g.73118673_73118674insT (hg19) chr2:g.72891544_72891545insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891549dup , CM000664.2:g.72891549dup GRCh38
NC_000002.11:g.73118678dup , CM000664.1:g.73118678dup GRCh37
NC_000002.10:g.72972186dup NCBI36
NG_008234.1:g.9167dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*12dup MANE Select ENSP00000234454.5:n.*12dup
ENST00000234454.5:c.*12dup ENSP00000234454.5:n.*12dup
ENST00000498749.1:n.743dup
NM_003124.4:c.*12dup NP_003115.1:n.*12dup
NM_003124.5:c.*12dup MANE Select NP_003115.1:n.*12dup
Search 100 bp 5'
Search 100 bp 3'