Canonical Allele Identifier: CA635739005
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1177851078
gnomAD v2: 20-48522078-A-G
gnomAD v3: 20-49905541-A-G
gnomAD v4: 20-49905541-A-G
MyVariant Identifiers: chr20:g.48522078A>G (hg19) chr20:g.49905541A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905541A>G , CM000682.2:g.49905541A>G GRCh38
NC_000020.10:g.48522078A>G , CM000682.1:g.48522078A>G GRCh37
NC_000020.9:g.47955485A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*78T>C MANE Select ENSP00000289431.5:n.*78T>C
ENST00000289431.9:c.*78T>C ENSP00000289431.5:n.*78T>C
ENST00000422556.1:c.*78T>C ENSP00000416799.1:n.*78T>C
NM_001135773.1:c.*78T>C NP_001129245.1:n.*78T>C
NM_006038.3:c.*78T>C NP_006029.1:n.*78T>C
XM_006723894.1:c.*78T>C XP_006723957.1:n.*78T>C
XM_011529116.1:c.*78T>C XP_011527418.1:n.*78T>C
NM_006038.4:c.*78T>C MANE Select NP_006029.1:n.*78T>C
NM_001135773.2:c.*78T>C NP_001129245.1:n.*78T>C
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