Canonical Allele Identifier: CA315121626
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs967653278
gnomAD v2: 20-48522082-G-A
gnomAD v3: 20-49905545-G-A
gnomAD v4: 20-49905545-G-A
MyVariant Identifiers: chr20:g.48522082G>A (hg19) chr20:g.49905545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905545G>A , CM000682.2:g.49905545G>A GRCh38
NC_000020.10:g.48522082G>A , CM000682.1:g.48522082G>A GRCh37
NC_000020.9:g.47955489G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*74C>T MANE Select ENSP00000289431.5:n.*74C>T
ENST00000289431.9:c.*74C>T ENSP00000289431.5:n.*74C>T
ENST00000422556.1:c.*74C>T ENSP00000416799.1:n.*74C>T
NM_001135773.1:c.*74C>T NP_001129245.1:n.*74C>T
NM_006038.3:c.*74C>T NP_006029.1:n.*74C>T
XM_006723894.1:c.*74C>T XP_006723957.1:n.*74C>T
XM_011529116.1:c.*74C>T XP_011527418.1:n.*74C>T
NM_006038.4:c.*74C>T MANE Select NP_006029.1:n.*74C>T
NM_001135773.2:c.*74C>T NP_001129245.1:n.*74C>T
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