Canonical Allele Identifier: CA408948542
Gene: SPATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906155G>T , CM000682.2:g.49906155G>T GRCh38
NC_000020.10:g.48522692G>T , CM000682.1:g.48522692G>T GRCh37
NC_000020.9:g.47956099G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1027C>A MANE Select ENSP00000289431.5:p.Pro343Thr
ENST00000289431.9:c.1027C>A ENSP00000289431.5:p.Pro343Thr
ENST00000422556.1:c.1027C>A ENSP00000416799.1:p.Pro343Thr
NM_001135773.1:c.1027C>A NP_001129245.1:p.Pro343Thr
NM_006038.3:c.1027C>A NP_006029.1:p.Pro343Thr
XM_006723894.1:c.1027C>A XP_006723957.1:p.Pro343Thr
XM_011529116.1:c.1027C>A XP_011527418.1:p.Pro343Thr
NM_006038.4:c.1027C>A MANE Select NP_006029.1:p.Pro343Thr
NM_001135773.2:c.1027C>A NP_001129245.1:p.Pro343Thr