Canonical Allele Identifier: CA2368281397
Gene: SPATA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906011_49906014delinsTGCA , CM000682.2:g.49906011_49906014delinsTGCA GRCh38
NC_000020.10:g.48522548_48522551delinsTGCA , CM000682.1:g.48522548_48522551delinsTGCA GRCh37
NC_000020.9:g.47955955_47955958delinsTGCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1168_1171delinsTGCA MANE Select ENSP00000289431.5:p.Cys390=
ENST00000289431.9:c.1168_1171delinsTGCA ENSP00000289431.5:p.Cys390=
ENST00000422556.1:c.1168_1171delinsTGCA ENSP00000416799.1:p.Cys390=
NM_001135773.1:c.1168_1171delinsTGCA NP_001129245.1:p.Cys390=
NM_006038.3:c.1168_1171delinsTGCA NP_006029.1:p.Cys390=
XM_006723894.1:c.1168_1171delinsTGCA XP_006723957.1:p.Cys390=
XM_011529116.1:c.1168_1171delinsTGCA XP_011527418.1:p.Cys390=
NM_006038.4:c.1168_1171delinsTGCA MANE Select NP_006029.1:p.Cys390=
NM_001135773.2:c.1168_1171delinsTGCA NP_001129245.1:p.Cys390=
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