Canonical Allele Identifier: CA13631809
Gene: WSCD2 HGNC NCBI
gnomAD v2:
12:108644189 T / C
gnomAD v3:
12:108250412 T / C
gnomAD v4:
chr12-108250412-T-C
Joint Max Group AF 0.7876249 (AFR)
Genomes Max Group AF 0.7876055 (AFR)
Exomes Max Group AF 0.47069863 (NFE)
dbSNP:
9739493
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250412T>C , CM000674.2:g.108250412T>C GRCh38
NC_000012.11:g.108644189T>C , CM000674.1:g.108644189T>C GRCh37
NC_000012.10:g.107168319T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547525.6:c.*2069T>C MANE Select ENSP00000448047.1:n.*2069T>C
ENST00000332082.8:c.*2069T>C ENSP00000331933.4:n.*2069T>C
NM_001304447.1:c.*2069T>C NP_001291376.1:n.*2069T>C
NM_014653.3:c.*2069T>C NP_055468.2:n.*2069T>C
NM_014653.4:c.*2069T>C MANE Select NP_055468.2:n.*2069T>C
NM_001304447.2:c.*2069T>C NP_001291376.1:n.*2069T>C
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