Canonical Allele Identifier: CA2368281361
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs2090139424
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905943_49905954del , CM000682.2:g.49905943_49905954del GRCh38
NC_000020.10:g.48522480_48522491del , CM000682.1:g.48522480_48522491del GRCh37
NC_000020.9:g.47955887_47955898del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1234_1245del MANE Select ENSP00000289431.5:p.Ala412_Ser415del
ENST00000289431.9:c.1234_1245del ENSP00000289431.5:p.Ala412_Ser415del
ENST00000422556.1:c.1234_1245del ENSP00000416799.1:p.Ala412_Ser415del
NM_001135773.1:c.1234_1245del NP_001129245.1:p.Ala412_Ser415del
NM_006038.3:c.1234_1245del NP_006029.1:p.Ala412_Ser415del
XM_006723894.1:c.1234_1245del XP_006723957.1:p.Ala412_Ser415del
XM_011529116.1:c.1234_1245del XP_011527418.1:p.Ala412_Ser415del
NM_006038.4:c.1234_1245del MANE Select NP_006029.1:p.Ala412_Ser415del
NM_001135773.2:c.1234_1245del NP_001129245.1:p.Ala412_Ser415del
Search 100 bp 5'
Search 100 bp 3'