Canonical Allele Identifier: CA347232813

Gene: SPR

Linked Data

• MyVariant Identifiers: chr2:g.73118610T>A (hg19) ; chr2:g.72891481T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891481T>A , CM000664.2:g.72891481T>A	GRCh38
NC_000002.11:g.73118610T>A , CM000664.1:g.73118610T>A	GRCh37
NC_000002.10:g.72972118T>A	NCBI36
NG_008234.1:g.9099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.730T>A MANE Select	ENSP00000234454.5:p.Leu244Ile
ENST00000234454.5:c.730T>A	ENSP00000234454.5:p.Leu244Ile
ENST00000498749.1:n.675T>A
NM_003124.4:c.730T>A	NP_003115.1:p.Leu244Ile
NM_003124.5:c.730T>A MANE Select	NP_003115.1:p.Leu244Ile