Canonical Allele Identifier: CA13631809

Gene: WSCD2

Linked Data

• dbSNP Id: rs9739493
• gnomAD v2: 12-108644189-T-C
• gnomAD v3: 12-108250412-T-C
• gnomAD v4: 12-108250412-T-C
• MyVariant Identifiers: chr12:g.108644189T>C (hg19) ; chr12:g.108250412T>C (hg38)

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