Canonical Allele Identifier: CA2797375566

Gene: WSCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108250313T>C , CM000674.2:g.108250313T>C	GRCh38
NC_000012.11:g.108644090T>C , CM000674.1:g.108644090T>C	GRCh37
NC_000012.10:g.107168220T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000547525.6:c.*1970T>C MANE Select	ENSP00000448047.1:n.*1970T>C
ENST00000332082.8:c.*1970T>C	ENSP00000331933.4:n.*1970T>C
NM_001304447.1:c.*1970T>C	NP_001291376.1:n.*1970T>C
NM_014653.3:c.*1970T>C	NP_055468.2:n.*1970T>C
NM_014653.4:c.*1970T>C MANE Select	NP_055468.2:n.*1970T>C
NM_001304447.2:c.*1970T>C	NP_001291376.1:n.*1970T>C