Canonical Allele Identifier: CA199996

Gene: DSC2

Linked Data

• ClinVar Variation Id: 46186
• ClinVar RCV Id: RCV000018343 ; RCV000039429 ; RCV000157178 ; RCV000181132 ; RCV000202657 ; RCV000253786 ; RCV000845558 ; RCV003993761
• dbSNP Id: rs200056085
• ExAC: 18:28647999 T / TTC
• gnomAD v2: 18-28647999-T-TTC
• gnomAD v3: 18-31068033-T-TTC
• gnomAD v4: 18-31068033-T-TTC
• COSMIC: COSM5828652
• MyVariant Identifiers: chr18:g.28648000_28648001dup (hg19) ; chr18:g.28648000_28648001dupTC (hg19) ; chr18:g.28647999_28648000insTC (hg19) ; chr18:g.31068034_31068035dupTC (hg38) ; chr18:g.31068033_31068034insTC (hg38)
• PubMed: PMID:7971964 ; PMID:17033975 ; PMID:20031617 ; PMID:20197793 ; PMID:20400443 ; PMID:20716751 ; PMID:20829228 ; PMID:21062920 ; PMID:23757202 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068035_31068036dup , CM000680.2:g.31068035_31068036dup	GRCh38
NC_000018.9:g.28648001_28648002dup , CM000680.1:g.28648001_28648002dup	GRCh37
NC_000018.8:g.26901999_26902000dup	NCBI36
NG_008208.2:g.39391_39392dup , LRG_400:g.39391_39392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2257_2258dup	ENSP00000507826.1:p.Ala754LysfsTer4
ENST00000251081.8:c.*188_*189dup	ENSP00000251081.6:n.*188_*189dup
ENST00000280904.11:c.2686_2687dup MANE Select	ENSP00000280904.6:p.Ala897LysfsTer4
ENST00000648081.1:c.2257_2258dup	ENSP00000497441.1:p.Ala754LysfsTer4
ENST00000251081.6:c.*188_*189dup	ENSP00000251081.6:n.*188_*189dup
ENST00000280904.10:c.2686_2687dup	ENSP00000280904.6:p.Ala897LysfsTer4
NM_004949.4:c.*188_*189dup	NP_004940.1:n.*188_*189dup
NM_024422.4:c.2686_2687dup	NP_077740.1:p.Ala897LysfsTer4
XM_005258206.3:c.2257_2258dup	XP_005258263.1:p.Ala754LysfsTer4
XM_005258206.4:c.2257_2258dup	XP_005258263.1:p.Ala754LysfsTer4
NM_004949.5:c.*188_*189dup	NP_004940.1:n.*188_*189dup
NM_024422.6:c.2686_2687dup MANE Select	NP_077740.1:p.Ala897LysfsTer4