Canonical Allele Identifier: CA1709016

Gene: SPR

Linked Data

• ClinVar Variation Id: 1316028
• ClinVar RCV Id: RCV001757475
• dbSNP Id: rs748158373
• ExAC: 2:73118536 G / A
• gnomAD v2: 2-73118536-G-A
• gnomAD v3: 2-72891407-G-A
• gnomAD v4: 2-72891407-G-A
• MyVariant Identifiers: chr2:g.73118536G>A (hg19) ; chr2:g.72891407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891407G>A , CM000664.2:g.72891407G>A	GRCh38
NC_000002.11:g.73118536G>A , CM000664.1:g.73118536G>A	GRCh37
NC_000002.10:g.72972044G>A	NCBI36
NG_008234.1:g.9025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.656G>A MANE Select	ENSP00000234454.5:p.Arg219Gln
ENST00000234454.5:c.656G>A	ENSP00000234454.5:p.Arg219Gln
ENST00000498749.1:n.601G>A
NM_003124.4:c.656G>A	NP_003115.1:p.Arg219Gln
NM_003124.5:c.656G>A MANE Select	NP_003115.1:p.Arg219Gln