Canonical Allele Identifier: CA315121723

Gene: SPATA2

Linked Data

• dbSNP Id: rs763948942
• gnomAD v3: 20-49905609-C-A
• gnomAD v4: 20-49905609-C-A
• MyVariant Identifiers: chr20:g.48522146C>A (hg19) ; chr20:g.49905609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905609C>A , CM000682.2:g.49905609C>A	GRCh38
NC_000020.10:g.48522146C>A , CM000682.1:g.48522146C>A	GRCh37
NC_000020.9:g.47955553C>A	NCBI36

Transcript Alleles

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