Canonical Allele Identifier: CA347232847
Gene: SPR HGNC NCBI

Linked Data

gnomAD v4: 2-72891495-C-A
MyVariant Identifiers: chr2:g.73118624C>A (hg19) chr2:g.72891495C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891495C>A , CM000664.2:g.72891495C>A GRCh38
NC_000002.11:g.73118624C>A , CM000664.1:g.73118624C>A GRCh37
NC_000002.10:g.72972132C>A NCBI36
NG_008234.1:g.9113C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.744C>A MANE Select ENSP00000234454.5:p.Asp248Glu
ENST00000234454.5:c.744C>A ENSP00000234454.5:p.Asp248Glu
ENST00000498749.1:n.689C>A
NM_003124.4:c.744C>A NP_003115.1:p.Asp248Glu
NM_003124.5:c.744C>A MANE Select NP_003115.1:p.Asp248Glu
Search 100 bp 5'
Search 100 bp 3'