Canonical Allele Identifier: CA2368281470
Gene: SPATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906164_49906165delinsCT , CM000682.2:g.49906164_49906165delinsCT GRCh38
NC_000020.10:g.48522701_48522702delinsCT , CM000682.1:g.48522701_48522702delinsCT GRCh37
NC_000020.9:g.47956108_47956109delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1017_1018delinsAG MANE Select ENSP00000289431.5:p.Thr339=
ENST00000289431.9:c.1017_1018delinsAG ENSP00000289431.5:p.Thr339=
ENST00000422556.1:c.1017_1018delinsAG ENSP00000416799.1:p.Thr339=
NM_001135773.1:c.1017_1018delinsAG NP_001129245.1:p.Thr339=
NM_006038.3:c.1017_1018delinsAG NP_006029.1:p.Thr339=
XM_006723894.1:c.1017_1018delinsAG XP_006723957.1:p.Thr339=
XM_011529116.1:c.1017_1018delinsAG XP_011527418.1:p.Thr339=
NM_006038.4:c.1017_1018delinsAG MANE Select NP_006029.1:p.Thr339=
NM_001135773.2:c.1017_1018delinsAG NP_001129245.1:p.Thr339=