Canonical Allele Identifier: CA408948360
Gene: SPATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906132C>A , CM000682.2:g.49906132C>A GRCh38
NC_000020.10:g.48522669C>A , CM000682.1:g.48522669C>A GRCh37
NC_000020.9:g.47956076C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1050G>T MANE Select ENSP00000289431.5:p.Gln350His
ENST00000289431.9:c.1050G>T ENSP00000289431.5:p.Gln350His
ENST00000422556.1:c.1050G>T ENSP00000416799.1:p.Gln350His
NM_001135773.1:c.1050G>T NP_001129245.1:p.Gln350His
NM_006038.3:c.1050G>T NP_006029.1:p.Gln350His
XM_006723894.1:c.1050G>T XP_006723957.1:p.Gln350His
XM_011529116.1:c.1050G>T XP_011527418.1:p.Gln350His
NM_006038.4:c.1050G>T MANE Select NP_006029.1:p.Gln350His
NM_001135773.2:c.1050G>T NP_001129245.1:p.Gln350His