Canonical Allele Identifier: CA315121842

Gene: SPATA2

Linked Data

• dbSNP Id: rs1054464175
• gnomAD v3: 20-49905802-A-G
• gnomAD v4: 20-49905802-A-G
• COSMIC: COSM3933879
• MyVariant Identifiers: chr20:g.48522339A>G (hg19) ; chr20:g.49905802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905802A>G , CM000682.2:g.49905802A>G	GRCh38
NC_000020.10:g.48522339A>G , CM000682.1:g.48522339A>G	GRCh37
NC_000020.9:g.47955746A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1380T>C MANE Select	ENSP00000289431.5:p.Cys460=
ENST00000289431.9:c.1380T>C	ENSP00000289431.5:p.Cys460=
ENST00000422556.1:c.1380T>C	ENSP00000416799.1:p.Cys460=
NM_001135773.1:c.1380T>C	NP_001129245.1:p.Cys460=
NM_006038.3:c.1380T>C	NP_006029.1:p.Cys460=
XM_006723894.1:c.1380T>C	XP_006723957.1:p.Cys460=
XM_011529116.1:c.1380T>C	XP_011527418.1:p.Cys460=
NM_006038.4:c.1380T>C MANE Select	NP_006029.1:p.Cys460=
NM_001135773.2:c.1380T>C	NP_001129245.1:p.Cys460=