Canonical Allele Identifier: CA2653279888

Gene: SPATA2

Linked Data

• gnomAD v4: 20-49905599-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905599C>A , CM000682.2:g.49905599C>A	GRCh38
NC_000020.10:g.48522136C>A , CM000682.1:g.48522136C>A	GRCh37
NC_000020.9:g.47955543C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*20G>T MANE Select	ENSP00000289431.5:n.*20G>T
ENST00000289431.9:c.*20G>T	ENSP00000289431.5:n.*20G>T
ENST00000422556.1:c.*20G>T	ENSP00000416799.1:n.*20G>T
NM_001135773.1:c.*20G>T	NP_001129245.1:n.*20G>T
NM_006038.3:c.*20G>T	NP_006029.1:n.*20G>T
XM_006723894.1:c.*20G>T	XP_006723957.1:n.*20G>T
XM_011529116.1:c.*20G>T	XP_011527418.1:n.*20G>T
NM_006038.4:c.*20G>T MANE Select	NP_006029.1:n.*20G>T
NM_001135773.2:c.*20G>T	NP_001129245.1:n.*20G>T