Canonical Allele Identifier: CA2516852141
Gene: SPATA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905723_49905724dup , CM000682.2:g.49905723_49905724dup GRCh38
NC_000020.10:g.48522260_48522261dup , CM000682.1:g.48522260_48522261dup GRCh37
NC_000020.9:g.47955667_47955668dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1458_1459dup MANE Select ENSP00000289431.5:p.Tyr487PhefsTer22
ENST00000289431.9:c.1458_1459dup ENSP00000289431.5:p.Tyr487PhefsTer22
ENST00000422556.1:c.1458_1459dup ENSP00000416799.1:p.Tyr487PhefsTer22
NM_001135773.1:c.1458_1459dup NP_001129245.1:p.Tyr487PhefsTer22
NM_006038.3:c.1458_1459dup NP_006029.1:p.Tyr487PhefsTer22
XM_006723894.1:c.1458_1459dup XP_006723957.1:p.Tyr487PhefsTer22
XM_011529116.1:c.1458_1459dup XP_011527418.1:p.Tyr487PhefsTer22
NM_006038.4:c.1458_1459dup MANE Select NP_006029.1:p.Tyr487PhefsTer22
NM_001135773.2:c.1458_1459dup NP_001129245.1:p.Tyr487PhefsTer22
Search 100 bp 5'
Search 100 bp 3'