Canonical Allele Identifier: CA2577424466
Gene: SPATA2 HGNC NCBI

Linked Data

gnomAD v4: 20-49905533-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905533T>G , CM000682.2:g.49905533T>G GRCh38
NC_000020.10:g.48522070T>G , CM000682.1:g.48522070T>G GRCh37
NC_000020.9:g.47955477T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*86A>C MANE Select ENSP00000289431.5:n.*86A>C
ENST00000289431.9:c.*86A>C ENSP00000289431.5:n.*86A>C
ENST00000422556.1:c.*86A>C ENSP00000416799.1:n.*86A>C
NM_001135773.1:c.*86A>C NP_001129245.1:n.*86A>C
NM_006038.3:c.*86A>C NP_006029.1:n.*86A>C
XM_006723894.1:c.*86A>C XP_006723957.1:n.*86A>C
XM_011529116.1:c.*86A>C XP_011527418.1:n.*86A>C
NM_006038.4:c.*86A>C MANE Select NP_006029.1:n.*86A>C
NM_001135773.2:c.*86A>C NP_001129245.1:n.*86A>C
Search 100 bp 5'
Search 100 bp 3'