Canonical Allele Identifier: CA511018262

Gene: SPATA2

Linked Data

• dbSNP Id: rs2090141672
• gnomAD v4: 20-49906135-C-A
• MyVariant Identifiers: chr20:g.48522672C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906135C>A , CM000682.2:g.49906135C>A	GRCh38
NC_000020.10:g.48522672C>A , CM000682.1:g.48522672C>A	GRCh37
NC_000020.9:g.47956079C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1047G>T MANE Select	ENSP00000289431.5:p.Arg349=
ENST00000289431.9:c.1047G>T	ENSP00000289431.5:p.Arg349=
ENST00000422556.1:c.1047G>T	ENSP00000416799.1:p.Arg349=
NM_001135773.1:c.1047G>T	NP_001129245.1:p.Arg349=
NM_006038.3:c.1047G>T	NP_006029.1:p.Arg349=
XM_006723894.1:c.1047G>T	XP_006723957.1:p.Arg349=
XM_011529116.1:c.1047G>T	XP_011527418.1:p.Arg349=
NM_006038.4:c.1047G>T MANE Select	NP_006029.1:p.Arg349=
NM_001135773.2:c.1047G>T	NP_001129245.1:p.Arg349=