Canonical Allele Identifier: CA315121646

Gene: SPATA2

Linked Data

• dbSNP Id: rs977271671
• gnomAD v3: 20-49905557-T-C
• gnomAD v4: 20-49905557-T-C
• MyVariant Identifiers: chr20:g.48522094T>C (hg19) ; chr20:g.49905557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905557T>C , CM000682.2:g.49905557T>C	GRCh38
NC_000020.10:g.48522094T>C , CM000682.1:g.48522094T>C	GRCh37
NC_000020.9:g.47955501T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*62A>G MANE Select	ENSP00000289431.5:n.*62A>G
ENST00000289431.9:c.*62A>G	ENSP00000289431.5:n.*62A>G
ENST00000422556.1:c.*62A>G	ENSP00000416799.1:n.*62A>G
NM_001135773.1:c.*62A>G	NP_001129245.1:n.*62A>G
NM_006038.3:c.*62A>G	NP_006029.1:n.*62A>G
XM_006723894.1:c.*62A>G	XP_006723957.1:n.*62A>G
XM_011529116.1:c.*62A>G	XP_011527418.1:n.*62A>G
NM_006038.4:c.*62A>G MANE Select	NP_006029.1:n.*62A>G
NM_001135773.2:c.*62A>G	NP_001129245.1:n.*62A>G