Canonical Allele Identifier: CA9904829
Gene: SPATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2463701
ClinVar RCV Id: RCV004255695
dbSNP Id: rs377592515
ExAC: 20:48522325 C / T
gnomAD v2: 20-48522325-C-T
gnomAD v3: 20-49905788-C-T
gnomAD v4: 20-49905788-C-T
MyVariant Identifiers: chr20:g.48522325C>T (hg19) chr20:g.49905788C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905788C>T , CM000682.2:g.49905788C>T GRCh38
NC_000020.10:g.48522325C>T , CM000682.1:g.48522325C>T GRCh37
NC_000020.9:g.47955732C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1394G>A MANE Select ENSP00000289431.5:p.Arg465His
ENST00000289431.9:c.1394G>A ENSP00000289431.5:p.Arg465His
ENST00000422556.1:c.1394G>A ENSP00000416799.1:p.Arg465His
NM_001135773.1:c.1394G>A NP_001129245.1:p.Arg465His
NM_006038.3:c.1394G>A NP_006029.1:p.Arg465His
XM_006723894.1:c.1394G>A XP_006723957.1:p.Arg465His
XM_011529116.1:c.1394G>A XP_011527418.1:p.Arg465His
NM_006038.4:c.1394G>A MANE Select NP_006029.1:p.Arg465His
NM_001135773.2:c.1394G>A NP_001129245.1:p.Arg465His
Search 100 bp 5'
Search 100 bp 3'