Canonical Allele Identifier: CA533656157

Gene: SPR

Linked Data

• dbSNP Id: rs1197515123
• gnomAD v2: 2-73118473-T-C
• gnomAD v3: 2-72891344-T-C
• gnomAD v4: 2-72891344-T-C
• MyVariant Identifiers: chr2:g.73118473T>C (hg19) ; chr2:g.72891344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891344T>C , CM000664.2:g.72891344T>C	GRCh38
NC_000002.11:g.73118473T>C , CM000664.1:g.73118473T>C	GRCh37
NC_000002.10:g.72971981T>C	NCBI36
NG_008234.1:g.8962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.596-3T>C MANE Select	ENSP00000234454.5:n.596-3T>C
ENST00000234454.5:c.596-3T>C	ENSP00000234454.5:n.596-3T>C
ENST00000498749.1:n.541-3T>C
NM_003124.4:c.596-3T>C	NP_003115.1:n.596-3T>C
NM_003124.5:c.596-3T>C MANE Select	NP_003115.1:n.596-3T>C