Canonical Allele Identifier: CA9904920

Gene: SPATA2

Linked Data

• dbSNP Id: rs780665985
• ExAC: 20:48522694 TCA / T
• gnomAD v2: 20-48522694-TCA-T
• gnomAD v4: 20-49906157-TCA-T
• MyVariant Identifiers: chr20:g.48522695_48522696del (hg19) ; chr20:g.49906158_49906159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906158_49906159del , CM000682.2:g.49906158_49906159del	GRCh38
NC_000020.10:g.48522695_48522696del , CM000682.1:g.48522695_48522696del	GRCh37
NC_000020.9:g.47956102_47956103del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1023_1024del MANE Select	ENSP00000289431.5:p.Glu342ThrfsTer?
ENST00000289431.9:c.1023_1024del	ENSP00000289431.5:p.Glu342ThrfsTer?
ENST00000422556.1:c.1023_1024del	ENSP00000416799.1:p.Glu342ThrfsTer?
NM_001135773.1:c.1023_1024del	NP_001129245.1:p.Glu342ThrfsTer?
NM_006038.3:c.1023_1024del	NP_006029.1:p.Glu342ThrfsTer?
XM_006723894.1:c.1023_1024del	XP_006723957.1:p.Glu342ThrfsTer?
XM_011529116.1:c.1023_1024del	XP_011527418.1:p.Glu342ThrfsTer?
NM_006038.4:c.1023_1024del MANE Select	NP_006029.1:p.Glu342ThrfsTer?
NM_001135773.2:c.1023_1024del	NP_001129245.1:p.Glu342ThrfsTer?