Canonical Allele Identifier: CA2541033428
Gene: SPATA2 HGNC NCBI

Linked Data

gnomAD v4: 20-49905540-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905540A>C , CM000682.2:g.49905540A>C GRCh38
NC_000020.10:g.48522077A>C , CM000682.1:g.48522077A>C GRCh37
NC_000020.9:g.47955484A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*79T>G MANE Select ENSP00000289431.5:n.*79T>G
ENST00000289431.9:c.*79T>G ENSP00000289431.5:n.*79T>G
ENST00000422556.1:c.*79T>G ENSP00000416799.1:n.*79T>G
NM_001135773.1:c.*79T>G NP_001129245.1:n.*79T>G
NM_006038.3:c.*79T>G NP_006029.1:n.*79T>G
XM_006723894.1:c.*79T>G XP_006723957.1:n.*79T>G
XM_011529116.1:c.*79T>G XP_011527418.1:n.*79T>G
NM_006038.4:c.*79T>G MANE Select NP_006029.1:n.*79T>G
NM_001135773.2:c.*79T>G NP_001129245.1:n.*79T>G
Search 100 bp 5'
Search 100 bp 3'