Canonical Allele Identifier: CA2577424467

Gene: SPATA2

Linked Data

• gnomAD v4: 20-49905576-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905576G>A , CM000682.2:g.49905576G>A	GRCh38
NC_000020.10:g.48522113G>A , CM000682.1:g.48522113G>A	GRCh37
NC_000020.9:g.47955520G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*43C>T MANE Select	ENSP00000289431.5:n.*43C>T
ENST00000289431.9:c.*43C>T	ENSP00000289431.5:n.*43C>T
ENST00000422556.1:c.*43C>T	ENSP00000416799.1:n.*43C>T
NM_001135773.1:c.*43C>T	NP_001129245.1:n.*43C>T
NM_006038.3:c.*43C>T	NP_006029.1:n.*43C>T
XM_006723894.1:c.*43C>T	XP_006723957.1:n.*43C>T
XM_011529116.1:c.*43C>T	XP_011527418.1:n.*43C>T
NM_006038.4:c.*43C>T MANE Select	NP_006029.1:n.*43C>T
NM_001135773.2:c.*43C>T	NP_001129245.1:n.*43C>T