Canonical Allele Identifier: CA2368281446

Gene: SPATA2

Linked Data

• dbSNP Id: rs2090141489
• gnomAD v4: 20-49906118-GGCCGCAGAGCATCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906123_49906137del , CM000682.2:g.49906123_49906137del	GRCh38
NC_000020.10:g.48522660_48522674del , CM000682.1:g.48522660_48522674del	GRCh37
NC_000020.9:g.47956067_47956081del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1049_1063del MANE Select	ENSP00000289431.5:p.Gln350_Arg354del
ENST00000289431.9:c.1049_1063del	ENSP00000289431.5:p.Gln350_Arg354del
ENST00000422556.1:c.1049_1063del	ENSP00000416799.1:p.Gln350_Arg354del
NM_001135773.1:c.1049_1063del	NP_001129245.1:p.Gln350_Arg354del
NM_006038.3:c.1049_1063del	NP_006029.1:p.Gln350_Arg354del
XM_006723894.1:c.1049_1063del	XP_006723957.1:p.Gln350_Arg354del
XM_011529116.1:c.1049_1063del	XP_011527418.1:p.Gln350_Arg354del
NM_006038.4:c.1049_1063del MANE Select	NP_006029.1:p.Gln350_Arg354del
NM_001135773.2:c.1049_1063del	NP_001129245.1:p.Gln350_Arg354del