Canonical Allele Identifier: CA9904823
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs773145127

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905729T>G , CM000682.2:g.49905729T>G GRCh38
NC_000020.10:g.48522266T>G , CM000682.1:g.48522266T>G GRCh37
NC_000020.9:g.47955673T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1453A>C MANE Select ENSP00000289431.5:p.Ser485Arg
ENST00000289431.9:c.1453A>C ENSP00000289431.5:p.Ser485Arg
ENST00000422556.1:c.1453A>C ENSP00000416799.1:p.Ser485Arg
NM_001135773.1:c.1453A>C NP_001129245.1:p.Ser485Arg
NM_006038.3:c.1453A>C NP_006029.1:p.Ser485Arg
XM_006723894.1:c.1453A>C XP_006723957.1:p.Ser485Arg
XM_011529116.1:c.1453A>C XP_011527418.1:p.Ser485Arg
NM_006038.4:c.1453A>C MANE Select NP_006029.1:p.Ser485Arg
NM_001135773.2:c.1453A>C NP_001129245.1:p.Ser485Arg