Canonical Allele Identifier: CA408948921

Gene: SPATA2

Linked Data

• MyVariant Identifiers: chr20:g.48522723C>A (hg19) ; chr20:g.49906186C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906186C>A , CM000682.2:g.49906186C>A	GRCh38
NC_000020.10:g.48522723C>A , CM000682.1:g.48522723C>A	GRCh37
NC_000020.9:g.47956130C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.996G>T MANE Select	ENSP00000289431.5:p.Gln332His
ENST00000289431.9:c.996G>T	ENSP00000289431.5:p.Gln332His
ENST00000422556.1:c.996G>T	ENSP00000416799.1:p.Gln332His
NM_001135773.1:c.996G>T	NP_001129245.1:p.Gln332His
NM_006038.3:c.996G>T	NP_006029.1:p.Gln332His
XM_006723894.1:c.996G>T	XP_006723957.1:p.Gln332His
XM_011529116.1:c.996G>T	XP_011527418.1:p.Gln332His
NM_006038.4:c.996G>T MANE Select	NP_006029.1:p.Gln332His
NM_001135773.2:c.996G>T	NP_001129245.1:p.Gln332His