Canonical Allele Identifier: CA243281257
Gene: WSCD2 HGNC NCBI

Linked Data

dbSNP Id: rs148590942
gnomAD v2: 12-108644222-C-T
gnomAD v3: 12-108250445-C-T
gnomAD v4: 12-108250445-C-T
MyVariant Identifiers: chr12:g.108644222C>T (hg19) chr12:g.108250445C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108250445C>T , CM000674.2:g.108250445C>T GRCh38
NC_000012.11:g.108644222C>T , CM000674.1:g.108644222C>T GRCh37
NC_000012.10:g.107168352C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547525.6:c.*2102C>T MANE Select ENSP00000448047.1:n.*2102C>T
ENST00000332082.8:c.*2102C>T ENSP00000331933.4:n.*2102C>T
NM_001304447.1:c.*2102C>T NP_001291376.1:n.*2102C>T
NM_014653.3:c.*2102C>T NP_055468.2:n.*2102C>T
NM_014653.4:c.*2102C>T MANE Select NP_055468.2:n.*2102C>T
NM_001304447.2:c.*2102C>T NP_001291376.1:n.*2102C>T
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