Canonical Allele Identifier: CA353990

Gene: DSC2 DSCAS

Linked Data

• ClinVar Variation Id: 222556
• ClinVar RCV Id: RCV000208353
• dbSNP Id: rs869025386
• MyVariant Identifiers: chr18:g.28681888C>G (hg19) ; chr18:g.31101925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31101925C>G , CM000680.2:g.31101925C>G	GRCh38
NC_000018.9:g.28681888C>G , CM000680.1:g.28681888C>G	GRCh37
NC_000018.8:g.26935886C>G	NCBI36
NG_008208.2:g.5501G>C , LRG_400:g.5501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.-361+511G>C (DSC2)	ENSP00000507826.1:n.-361+511G>C
ENST00000251081.8:c.47G>C (DSC2)	ENSP00000251081.6:p.Arg16Pro
ENST00000280904.11:c.47G>C (DSC2) MANE Select	ENSP00000280904.6:p.Arg16Pro
ENST00000648081.1:c.-398+511G>C (DSC2)	ENSP00000497441.1:n.-398+511G>C
ENST00000251081.6:c.47G>C (DSC2)	ENSP00000251081.6:p.Arg16Pro
ENST00000280904.10:c.47G>C (DSC2)	ENSP00000280904.6:p.Arg16Pro
NM_004949.4:c.47G>C (DSC2)	NP_004940.1:p.Arg16Pro
NM_024422.4:c.47G>C (DSC2)	NP_077740.1:p.Arg16Pro
NR_110785.1:n.136+202C>G (DSCAS)
NM_004949.5:c.47G>C (DSC2)	NP_004940.1:p.Arg16Pro
NM_024422.6:c.47G>C (DSC2) MANE Select	NP_077740.1:p.Arg16Pro