Canonical Allele Identifier: CA408948533

Gene: SPATA2

Linked Data

• dbSNP Id: rs1230041378
• gnomAD v2: 20-48522691-G-T
• gnomAD v4: 20-49906154-G-T
• MyVariant Identifiers: chr20:g.48522691G>T (hg19) ; chr20:g.49906154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906154G>T , CM000682.2:g.49906154G>T	GRCh38
NC_000020.10:g.48522691G>T , CM000682.1:g.48522691G>T	GRCh37
NC_000020.9:g.47956098G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1028C>A MANE Select	ENSP00000289431.5:p.Pro343His
ENST00000289431.9:c.1028C>A	ENSP00000289431.5:p.Pro343His
ENST00000422556.1:c.1028C>A	ENSP00000416799.1:p.Pro343His
NM_001135773.1:c.1028C>A	NP_001129245.1:p.Pro343His
NM_006038.3:c.1028C>A	NP_006029.1:p.Pro343His
XM_006723894.1:c.1028C>A	XP_006723957.1:p.Pro343His
XM_011529116.1:c.1028C>A	XP_011527418.1:p.Pro343His
NM_006038.4:c.1028C>A MANE Select	NP_006029.1:p.Pro343His
NM_001135773.2:c.1028C>A	NP_001129245.1:p.Pro343His