Canonical Allele Identifier: CA511018187

Gene: SPATA2

Linked Data

• dbSNP Id: rs2090137267
• gnomAD v3: 20-49905787-G-C
• gnomAD v4: 20-49905787-G-C
• MyVariant Identifiers: chr20:g.48522324G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905787G>C , CM000682.2:g.49905787G>C	GRCh38
NC_000020.10:g.48522324G>C , CM000682.1:g.48522324G>C	GRCh37
NC_000020.9:g.47955731G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1395C>G MANE Select	ENSP00000289431.5:p.Arg465=
ENST00000289431.9:c.1395C>G	ENSP00000289431.5:p.Arg465=
ENST00000422556.1:c.1395C>G	ENSP00000416799.1:p.Arg465=
NM_001135773.1:c.1395C>G	NP_001129245.1:p.Arg465=
NM_006038.3:c.1395C>G	NP_006029.1:p.Arg465=
XM_006723894.1:c.1395C>G	XP_006723957.1:p.Arg465=
XM_011529116.1:c.1395C>G	XP_011527418.1:p.Arg465=
NM_006038.4:c.1395C>G MANE Select	NP_006029.1:p.Arg465=
NM_001135773.2:c.1395C>G	NP_001129245.1:p.Arg465=