Canonical Allele Identifier: CA1709036

Gene: SPR

Linked Data

• ClinVar Variation Id: 412652
• ClinVar RCV Id: RCV000476650 ; RCV001143268
• dbSNP Id: rs145082655
• ExAC: 2:73118665 A / G
• gnomAD v2: 2-73118665-A-G
• gnomAD v3: 2-72891536-A-G
• gnomAD v4: 2-72891536-A-G
• MyVariant Identifiers: chr2:g.73118665A>G (hg19) ; chr2:g.72891536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891536A>G , CM000664.2:g.72891536A>G	GRCh38
NC_000002.11:g.73118665A>G , CM000664.1:g.73118665A>G	GRCh37
NC_000002.10:g.72972173A>G	NCBI36
NG_008234.1:g.9154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.785A>G MANE Select	ENSP00000234454.5:p.Ter262=
ENST00000234454.5:c.785A>G	ENSP00000234454.5:p.Ter262=
ENST00000498749.1:n.730A>G
NM_003124.4:c.785A>G	NP_003115.1:p.Ter262=
NM_003124.5:c.785A>G MANE Select	NP_003115.1:p.Ter262=