Canonical Allele Identifier: CA347232886

Gene: SPR

Linked Data

• MyVariant Identifiers: chr2:g.73118641C>A (hg19) ; chr2:g.72891512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891512C>A , CM000664.2:g.72891512C>A	GRCh38
NC_000002.11:g.73118641C>A , CM000664.1:g.73118641C>A	GRCh37
NC_000002.10:g.72972149C>A	NCBI36
NG_008234.1:g.9130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.761C>A MANE Select	ENSP00000234454.5:p.Ala254Asp
ENST00000234454.5:c.761C>A	ENSP00000234454.5:p.Ala254Asp
ENST00000498749.1:n.706C>A
NM_003124.4:c.761C>A	NP_003115.1:p.Ala254Asp
NM_003124.5:c.761C>A MANE Select	NP_003115.1:p.Ala254Asp