Canonical Allele Identifier: CA347232888

Gene: SPR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.761C>T MANE Select	ENSP00000234454.5:p.Ala254Val
ENST00000234454.5:c.761C>T	ENSP00000234454.5:p.Ala254Val
ENST00000498749.1:n.706C>T
NM_003124.4:c.761C>T	NP_003115.1:p.Ala254Val
NM_003124.5:c.761C>T MANE Select	NP_003115.1:p.Ala254Val