Canonical Allele Identifier: CA9904808
Gene: SPATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2220322
ClinVar RCV Id: RCV004089748
dbSNP Id: rs147213348
ExAC: 20:48522167 C / T
gnomAD v2: 20-48522167-C-T
gnomAD v3: 20-49905630-C-T
gnomAD v4: 20-49905630-C-T
MyVariant Identifiers: chr20:g.48522167C>T (hg19) chr20:g.49905630C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905630C>T , CM000682.2:g.49905630C>T GRCh38
NC_000020.10:g.48522167C>T , CM000682.1:g.48522167C>T GRCh37
NC_000020.9:g.47955574C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1552G>A MANE Select ENSP00000289431.5:p.Val518Met
ENST00000289431.9:c.1552G>A ENSP00000289431.5:p.Val518Met
ENST00000422556.1:c.1552G>A ENSP00000416799.1:p.Val518Met
NM_001135773.1:c.1552G>A NP_001129245.1:p.Val518Met
NM_006038.3:c.1552G>A NP_006029.1:p.Val518Met
XM_006723894.1:c.1552G>A XP_006723957.1:p.Val518Met
XM_011529116.1:c.1552G>A XP_011527418.1:p.Val518Met
NM_006038.4:c.1552G>A MANE Select NP_006029.1:p.Val518Met
NM_001135773.2:c.1552G>A NP_001129245.1:p.Val518Met
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