Canonical Allele Identifier: CA315121720
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1038538247
MyVariant Identifiers: chr20:g.48522140del (hg19) chr20:g.49905603del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905604del , CM000682.2:g.49905604del GRCh38
NC_000020.10:g.48522141del , CM000682.1:g.48522141del GRCh37
NC_000020.9:g.47955548del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*16del MANE Select ENSP00000289431.5:n.*16del
ENST00000289431.9:c.*16del ENSP00000289431.5:n.*16del
ENST00000422556.1:c.*16del ENSP00000416799.1:n.*16del
NM_001135773.1:c.*16del NP_001129245.1:n.*16del
NM_006038.3:c.*16del NP_006029.1:n.*16del
XM_006723894.1:c.*16del XP_006723957.1:n.*16del
XM_011529116.1:c.*16del XP_011527418.1:n.*16del
NM_006038.4:c.*16del MANE Select NP_006029.1:n.*16del
NM_001135773.2:c.*16del NP_001129245.1:n.*16del
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