Canonical Allele Identifier: CA029302

Gene: DSC2

Linked Data

• ClinVar Variation Id: 241471
• ClinVar RCV Id: RCV000226472 ; RCV000619062 ; RCV000853178 ; RCV001524120 ; RCV001569022 ; RCV003987471 ; RCV003998886
• dbSNP Id: rs777688726
• ExAC: 18:28662935 A / G
• gnomAD v2: 18-28662935-A-G
• gnomAD v3: 18-31082969-A-G
• gnomAD v4: 18-31082969-A-G
• MyVariant Identifiers: chr18:g.28662935A>G (hg19) ; chr18:g.31082969A>G (hg38)
• PubMed: PMID:17963498 ; PMID:20197793 ; PMID:24070718 ; PMID:26138720

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31082969A>G , CM000680.2:g.31082969A>G	GRCh38
NC_000018.9:g.28662935A>G , CM000680.1:g.28662935A>G	GRCh37
NC_000018.8:g.26916933A>G	NCBI36
NG_008208.2:g.24457T>C , LRG_400:g.24457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.605T>C	ENSP00000507826.1:p.Ile202Thr
ENST00000251081.8:c.1034T>C	ENSP00000251081.6:p.Ile345Thr
ENST00000280904.11:c.1034T>C MANE Select	ENSP00000280904.6:p.Ile345Thr
ENST00000648081.1:c.605T>C	ENSP00000497441.1:p.Ile202Thr
ENST00000251081.6:c.1034T>C	ENSP00000251081.6:p.Ile345Thr
ENST00000280904.10:c.1034T>C	ENSP00000280904.6:p.Ile345Thr
NM_004949.4:c.1034T>C	NP_004940.1:p.Ile345Thr
NM_024422.4:c.1034T>C	NP_077740.1:p.Ile345Thr
XM_005258206.3:c.605T>C	XP_005258263.1:p.Ile202Thr
XM_005258206.4:c.605T>C	XP_005258263.1:p.Ile202Thr
NM_004949.5:c.1034T>C	NP_004940.1:p.Ile345Thr
NM_024422.6:c.1034T>C MANE Select	NP_077740.1:p.Ile345Thr