Canonical Allele Identifier: CA1709012

Gene: SPR

Linked Data

• dbSNP Id: rs778602918
• ExAC: 2:73118523 G / GA
• gnomAD v2: 2-73118523-G-GA
• gnomAD v4: 2-72891394-G-GA
• MyVariant Identifiers: chr2:g.73118523_73118524insA (hg19) ; chr2:g.72891394_72891395insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72891395dup , CM000664.2:g.72891395dup	GRCh38
NC_000002.11:g.73118524dup , CM000664.1:g.73118524dup	GRCh37
NC_000002.10:g.72972032dup	NCBI36
NG_008234.1:g.9013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234454.6:c.644dup MANE Select	ENSP00000234454.5:p.Asp215GlufsTer?
ENST00000234454.5:c.644dup	ENSP00000234454.5:p.Asp215GlufsTer?
ENST00000498749.1:n.589dup
NM_003124.4:c.644dup	NP_003115.1:p.Asp215GlufsTer?
NM_003124.5:c.644dup MANE Select	NP_003115.1:p.Asp215GlufsTer?