Canonical Allele Identifier: CA315122159
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs375848135

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49906137G>A , CM000682.2:g.49906137G>A GRCh38
NC_000020.10:g.48522674G>A , CM000682.1:g.48522674G>A GRCh37
NC_000020.9:g.47956081G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1045C>T MANE Select ENSP00000289431.5:p.Arg349Trp
ENST00000289431.9:c.1045C>T ENSP00000289431.5:p.Arg349Trp
ENST00000422556.1:c.1045C>T ENSP00000416799.1:p.Arg349Trp
NM_001135773.1:c.1045C>T NP_001129245.1:p.Arg349Trp
NM_006038.3:c.1045C>T NP_006029.1:p.Arg349Trp
XM_006723894.1:c.1045C>T XP_006723957.1:p.Arg349Trp
XM_011529116.1:c.1045C>T XP_011527418.1:p.Arg349Trp
NM_006038.4:c.1045C>T MANE Select NP_006029.1:p.Arg349Trp
NM_001135773.2:c.1045C>T NP_001129245.1:p.Arg349Trp