Canonical Allele Identifier: CA607236460

Gene: WSCD2

Linked Data

• dbSNP Id: rs888925745
• gnomAD v2: 12-108644193-A-C
• gnomAD v3: 12-108250416-A-C
• gnomAD v4: 12-108250416-A-C
• MyVariant Identifiers: chr12:g.108644193A>C (hg19) ; chr12:g.108250416A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108250416A>C , CM000674.2:g.108250416A>C	GRCh38
NC_000012.11:g.108644193A>C , CM000674.1:g.108644193A>C	GRCh37
NC_000012.10:g.107168323A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000547525.6:c.*2073A>C MANE Select	ENSP00000448047.1:n.*2073A>C
ENST00000332082.8:c.*2073A>C	ENSP00000331933.4:n.*2073A>C
NM_001304447.1:c.*2073A>C	NP_001291376.1:n.*2073A>C
NM_014653.3:c.*2073A>C	NP_055468.2:n.*2073A>C
NM_014653.4:c.*2073A>C MANE Select	NP_055468.2:n.*2073A>C
NM_001304447.2:c.*2073A>C	NP_001291376.1:n.*2073A>C