Canonical Allele Identifier: CA2368281361

Gene: SPATA2

Linked Data

• dbSNP Id: rs2090139424

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