Canonical Allele Identifier: CA49798894

Gene: SPR

Linked Data

• dbSNP Id: rs560189413
• gnomAD v2: 2-73118826-C-G
• gnomAD v3: 2-72891697-C-G
• gnomAD v4: 2-72891697-C-G
• MyVariant Identifiers: chr2:g.73118826C>G (hg19) ; chr2:g.72891697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891697C>G , CM000664.2:g.72891697C>G	GRCh38
NC_000002.11:g.73118826C>G , CM000664.1:g.73118826C>G	GRCh37
NC_000002.10:g.72972334C>G	NCBI36
NG_008234.1:g.9315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.*160C>G MANE Select	ENSP00000234454.5:n.*160C>G
ENST00000234454.5:c.*160C>G	ENSP00000234454.5:n.*160C>G
ENST00000498749.1:n.891C>G
NM_003124.4:c.*160C>G	NP_003115.1:n.*160C>G
NM_003124.5:c.*160C>G MANE Select	NP_003115.1:n.*160C>G