Canonical Allele Identifier: CA408944970

Gene: SPATA2

Linked Data

• dbSNP Id: rs1225560150
• gnomAD v2: 20-48522158-A-G
• gnomAD v4: 20-49905621-A-G
• MyVariant Identifiers: chr20:g.48522158A>G (hg19) ; chr20:g.49905621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905621A>G , CM000682.2:g.49905621A>G	GRCh38
NC_000020.10:g.48522158A>G , CM000682.1:g.48522158A>G	GRCh37
NC_000020.9:g.47955565A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1561T>C MANE Select	ENSP00000289431.5:p.Ter521Gln
ENST00000289431.9:c.1561T>C	ENSP00000289431.5:p.Ter521Gln
ENST00000422556.1:c.1561T>C	ENSP00000416799.1:p.Ter521Gln
NM_001135773.1:c.1561T>C	NP_001129245.1:p.Ter521Gln
NM_006038.3:c.1561T>C	NP_006029.1:p.Ter521Gln
XM_006723894.1:c.1561T>C	XP_006723957.1:p.Ter521Gln
XM_011529116.1:c.1561T>C	XP_011527418.1:p.Ter521Gln
NM_006038.4:c.1561T>C MANE Select	NP_006029.1:p.Ter521Gln
NM_001135773.2:c.1561T>C	NP_001129245.1:p.Ter521Gln