Canonical Allele Identifier: CA2368281188
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs2090135311
gnomAD v4: 20-49905559-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905559A>G , CM000682.2:g.49905559A>G GRCh38
NC_000020.10:g.48522096A>G , CM000682.1:g.48522096A>G GRCh37
NC_000020.9:g.47955503A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*60T>C MANE Select ENSP00000289431.5:n.*60T>C
ENST00000289431.9:c.*60T>C ENSP00000289431.5:n.*60T>C
ENST00000422556.1:c.*60T>C ENSP00000416799.1:n.*60T>C
NM_001135773.1:c.*60T>C NP_001129245.1:n.*60T>C
NM_006038.3:c.*60T>C NP_006029.1:n.*60T>C
XM_006723894.1:c.*60T>C XP_006723957.1:n.*60T>C
XM_011529116.1:c.*60T>C XP_011527418.1:n.*60T>C
NM_006038.4:c.*60T>C MANE Select NP_006029.1:n.*60T>C
NM_001135773.2:c.*60T>C NP_001129245.1:n.*60T>C
Search 100 bp 5'
Search 100 bp 3'