Canonical Allele Identifier: CA347231534

Gene: SPR

Linked Data

• MyVariant Identifiers: chr2:g.73115537C>G (hg19) ; chr2:g.72888408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72888408C>G , CM000664.2:g.72888408C>G	GRCh38
NC_000002.11:g.73115537C>G , CM000664.1:g.73115537C>G	GRCh37
NC_000002.10:g.72969045C>G	NCBI36
NG_008234.1:g.6026C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234454.6:c.399C>G MANE Select	ENSP00000234454.5:p.Cys133Trp
ENST00000234454.5:c.399C>G	ENSP00000234454.5:p.Cys133Trp
ENST00000498749.1:n.356-12C>G
NM_003124.4:c.399C>G	NP_003115.1:p.Cys133Trp
NM_003124.5:c.399C>G MANE Select	NP_003115.1:p.Cys133Trp