Canonical Allele Identifier: CA2577424469
Gene: SPATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905590C>T , CM000682.2:g.49905590C>T GRCh38
NC_000020.10:g.48522127C>T , CM000682.1:g.48522127C>T GRCh37
NC_000020.9:g.47955534C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*29G>A MANE Select ENSP00000289431.5:n.*29G>A
ENST00000289431.9:c.*29G>A ENSP00000289431.5:n.*29G>A
ENST00000422556.1:c.*29G>A ENSP00000416799.1:n.*29G>A
NM_001135773.1:c.*29G>A NP_001129245.1:n.*29G>A
NM_006038.3:c.*29G>A NP_006029.1:n.*29G>A
XM_006723894.1:c.*29G>A XP_006723957.1:n.*29G>A
XM_011529116.1:c.*29G>A XP_011527418.1:n.*29G>A
NM_006038.4:c.*29G>A MANE Select NP_006029.1:n.*29G>A
NM_001135773.2:c.*29G>A NP_001129245.1:n.*29G>A