Canonical Allele Identifier: CA408948918
Gene: SPATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2246777
ClinVar RCV Id: RCV004106448

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906185C>G , CM000682.2:g.49906185C>G GRCh38
NC_000020.10:g.48522722C>G , CM000682.1:g.48522722C>G GRCh37
NC_000020.9:g.47956129C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.997G>C MANE Select ENSP00000289431.5:p.Asp333His
ENST00000289431.9:c.997G>C ENSP00000289431.5:p.Asp333His
ENST00000422556.1:c.997G>C ENSP00000416799.1:p.Asp333His
NM_001135773.1:c.997G>C NP_001129245.1:p.Asp333His
NM_006038.3:c.997G>C NP_006029.1:p.Asp333His
XM_006723894.1:c.997G>C XP_006723957.1:p.Asp333His
XM_011529116.1:c.997G>C XP_011527418.1:p.Asp333His
NM_006038.4:c.997G>C MANE Select NP_006029.1:p.Asp333His
NM_001135773.2:c.997G>C NP_001129245.1:p.Asp333His