Canonical Allele Identifier: CA315121721
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs370083864
gnomAD v2: 20-48522144-G-A
gnomAD v3: 20-49905607-G-A
gnomAD v4: 20-49905607-G-A
MyVariant Identifiers: chr20:g.48522144G>A (hg19) chr20:g.49905607G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905607G>A , CM000682.2:g.49905607G>A GRCh38
NC_000020.10:g.48522144G>A , CM000682.1:g.48522144G>A GRCh37
NC_000020.9:g.47955551G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*12C>T MANE Select ENSP00000289431.5:n.*12C>T
ENST00000289431.9:c.*12C>T ENSP00000289431.5:n.*12C>T
ENST00000422556.1:c.*12C>T ENSP00000416799.1:n.*12C>T
NM_001135773.1:c.*12C>T NP_001129245.1:n.*12C>T
NM_006038.3:c.*12C>T NP_006029.1:n.*12C>T
XM_006723894.1:c.*12C>T XP_006723957.1:n.*12C>T
XM_011529116.1:c.*12C>T XP_011527418.1:n.*12C>T
NM_006038.4:c.*12C>T MANE Select NP_006029.1:n.*12C>T
NM_001135773.2:c.*12C>T NP_001129245.1:n.*12C>T
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