Canonical Allele Identifier: CA1709008

Gene: SPR

Linked Data

• ClinVar Variation Id: 239510
• ClinVar RCV Id: RCV000732128 ; RCV000785106 ; RCV001088920
• dbSNP Id: rs200845457
• ExAC: 2:73118508 C / T
• gnomAD v2: 2-73118508-C-T
• gnomAD v3: 2-72891379-C-T
• gnomAD v4: 2-72891379-C-T
• MyVariant Identifiers: chr2:g.73118508C>T (hg19) ; chr2:g.72891379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891379C>T , CM000664.2:g.72891379C>T	GRCh38
NC_000002.11:g.73118508C>T , CM000664.1:g.73118508C>T	GRCh37
NC_000002.10:g.72972016C>T	NCBI36
NG_008234.1:g.8997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.628C>T MANE Select	ENSP00000234454.5:p.Arg210Trp
ENST00000234454.5:c.628C>T	ENSP00000234454.5:p.Arg210Trp
ENST00000498749.1:n.573C>T
NM_003124.4:c.628C>T	NP_003115.1:p.Arg210Trp
NM_003124.5:c.628C>T MANE Select	NP_003115.1:p.Arg210Trp