Canonical Allele Identifier: CA022752

Gene: DSC2

Linked Data

• ClinVar Variation Id: 46182
• ClinVar RCV Id: RCV000039425 ; RCV000244558 ; RCV000229598 ; RCV000766860 ; RCV001175843
• dbSNP Id: rs370325533
• ExAC: 18:28648870 C / T
• gnomAD v2: 18-28648870-C-T
• gnomAD v3: 18-31068904-C-T
• gnomAD v4: 18-31068904-C-T
• MyVariant Identifiers: chr18:g.28648870C>T (hg19) ; chr18:g.31068904C>T (hg38)
• PubMed: PMID:21636032 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068904C>T , CM000680.2:g.31068904C>T	GRCh38
NC_000018.9:g.28648870C>T , CM000680.1:g.28648870C>T	GRCh37
NC_000018.8:g.26902868C>T	NCBI36
NG_008208.2:g.38522G>A , LRG_400:g.38522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2069G>A	ENSP00000507826.1:p.Arg690His
ENST00000251081.8:c.2498G>A	ENSP00000251081.6:p.Arg833His
ENST00000280904.11:c.2498G>A MANE Select	ENSP00000280904.6:p.Arg833His
ENST00000648081.1:c.2069G>A	ENSP00000497441.1:p.Arg690His
ENST00000251081.6:c.2498G>A	ENSP00000251081.6:p.Arg833His
ENST00000280904.10:c.2498G>A	ENSP00000280904.6:p.Arg833His
NM_004949.4:c.2498G>A	NP_004940.1:p.Arg833His
NM_024422.4:c.2498G>A	NP_077740.1:p.Arg833His
XM_005258206.3:c.2069G>A	XP_005258263.1:p.Arg690His
XM_005258206.4:c.2069G>A	XP_005258263.1:p.Arg690His
NM_004949.5:c.2498G>A	NP_004940.1:p.Arg833His
NM_024422.6:c.2498G>A MANE Select	NP_077740.1:p.Arg833His