Canonical Allele Identifier: CA9904923
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs745486368

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906165del , CM000682.2:g.49906165del GRCh38
NC_000020.10:g.48522702del , CM000682.1:g.48522702del GRCh37
NC_000020.9:g.47956109del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1017del MANE Select ENSP00000289431.5:p.Asp340ThrfsTer?
ENST00000289431.9:c.1017del ENSP00000289431.5:p.Asp340ThrfsTer?
ENST00000422556.1:c.1017del ENSP00000416799.1:p.Asp340ThrfsTer?
NM_001135773.1:c.1017del NP_001129245.1:p.Asp340ThrfsTer?
NM_006038.3:c.1017del NP_006029.1:p.Asp340ThrfsTer?
XM_006723894.1:c.1017del XP_006723957.1:p.Asp340ThrfsTer?
XM_011529116.1:c.1017del XP_011527418.1:p.Asp340ThrfsTer?
NM_006038.4:c.1017del MANE Select NP_006029.1:p.Asp340ThrfsTer?
NM_001135773.2:c.1017del NP_001129245.1:p.Asp340ThrfsTer?