Canonical Allele Identifier: CA022624

Gene: DSC2

Linked Data

• ClinVar Variation Id: 36005
• ClinVar RCV Id: RCV000029663 ; RCV000039419 ; RCV000157173 ; RCV000148468 ; RCV000233024 ; RCV000776181 ; RCV000617398 ; RCV001080880 ; RCV003944841
• dbSNP Id: rs151024019
• ExAC: 18:28650748 A / C
• gnomAD v2: 18-28650748-A-C
• gnomAD v3: 18-31070782-A-C
• gnomAD v4: 18-31070782-A-C
• MyVariant Identifiers: chr18:g.28650748A>C (hg19) ; chr18:g.31070782A>C (hg38)
• PubMed: PMID:20031616 ; PMID:21606390 ; PMID:21606396 ; PMID:21859740 ; PMID:23299917 ; PMID:23861362 ; PMID:24055113 ; PMID:24967631 ; PMID:25351510 ; PMID:25447171 ; PMID:25637381 ; PMID:26332594 ; PMID:26899768 ; PMID:28255936

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070782A>C , CM000680.2:g.31070782A>C	GRCh38
NC_000018.9:g.28650748A>C , CM000680.1:g.28650748A>C	GRCh37
NC_000018.8:g.26904746A>C	NCBI36
NG_008208.2:g.36644T>G , LRG_400:g.36644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1765T>G	ENSP00000507826.1:p.Leu589Val
ENST00000251081.8:c.2194T>G	ENSP00000251081.6:p.Leu732Val
ENST00000280904.11:c.2194T>G MANE Select	ENSP00000280904.6:p.Leu732Val
ENST00000648081.1:c.1765T>G	ENSP00000497441.1:p.Leu589Val
ENST00000251081.6:c.2194T>G	ENSP00000251081.6:p.Leu732Val
ENST00000280904.10:c.2194T>G	ENSP00000280904.6:p.Leu732Val
NM_004949.4:c.2194T>G	NP_004940.1:p.Leu732Val
NM_024422.4:c.2194T>G	NP_077740.1:p.Leu732Val
XM_005258206.3:c.1765T>G	XP_005258263.1:p.Leu589Val
XM_005258206.4:c.1765T>G	XP_005258263.1:p.Leu589Val
NM_004949.5:c.2194T>G	NP_004940.1:p.Leu732Val
NM_024422.6:c.2194T>G MANE Select	NP_077740.1:p.Leu732Val