Canonical Allele Identifier: CA10651489

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326375
• ClinVar RCV Id: RCV000365415
• dbSNP Id: rs886053688
• MyVariant Identifiers: chr18:g.28647047G>T (hg19) ; chr18:g.31067081G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067081G>T , CM000680.2:g.31067081G>T	GRCh38
NC_000018.9:g.28647047G>T , CM000680.1:g.28647047G>T	GRCh37
NC_000018.8:g.26901045G>T	NCBI36
NG_008208.2:g.40345C>A , LRG_400:g.40345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*934C>A	ENSP00000507826.1:n.*934C>A
ENST00000251081.8:c.*1142C>A	ENSP00000251081.6:n.*1142C>A
ENST00000280904.11:c.*934C>A MANE Select	ENSP00000280904.6:n.*934C>A
ENST00000648081.1:c.*934C>A	ENSP00000497441.1:n.*934C>A
ENST00000251081.6:c.*1142C>A	ENSP00000251081.6:n.*1142C>A
ENST00000280904.10:c.*934C>A	ENSP00000280904.6:n.*934C>A
NM_004949.4:c.*1142C>A	NP_004940.1:n.*1142C>A
NM_024422.4:c.*934C>A	NP_077740.1:n.*934C>A
XM_005258206.3:c.*934C>A	XP_005258263.1:n.*934C>A
XM_005258206.4:c.*934C>A	XP_005258263.1:n.*934C>A
NM_004949.5:c.*1142C>A	NP_004940.1:n.*1142C>A
NM_024422.6:c.*934C>A MANE Select	NP_077740.1:n.*934C>A