Canonical Allele Identifier: CA9904826

Gene: SPATA2

Linked Data

• dbSNP Id: rs746449775
• ExAC: 20:48522310 TTGG / T
• gnomAD v2: 20-48522310-TTGG-T
• MyVariant Identifiers: chr20:g.48522311_48522313del (hg19) ; chr20:g.49905774_49905776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905777_49905779del , CM000682.2:g.49905777_49905779del	GRCh38
NC_000020.10:g.48522314_48522316del , CM000682.1:g.48522314_48522316del	GRCh37
NC_000020.9:g.47955721_47955723del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1406_1408del MANE Select	ENSP00000289431.5:p.Thr469del
ENST00000289431.9:c.1406_1408del	ENSP00000289431.5:p.Thr469del
ENST00000422556.1:c.1406_1408del	ENSP00000416799.1:p.Thr469del
NM_001135773.1:c.1406_1408del	NP_001129245.1:p.Thr469del
NM_006038.3:c.1406_1408del	NP_006029.1:p.Thr469del
XM_006723894.1:c.1406_1408del	XP_006723957.1:p.Thr469del
XM_011529116.1:c.1406_1408del	XP_011527418.1:p.Thr469del
NM_006038.4:c.1406_1408del MANE Select	NP_006029.1:p.Thr469del
NM_001135773.2:c.1406_1408del	NP_001129245.1:p.Thr469del