Canonical Allele Identifier: CA402113583

Gene: DSC2

Linked Data

• ClinVar Variation Id: 2142747
• ClinVar RCV Id: RCV003062691 ; RCV003533338
• dbSNP Id: rs146754448
• gnomAD v4: 18-31089507-C-T
• MyVariant Identifiers: chr18:g.28669470C>T (hg19) ; chr18:g.31089507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089507C>T , CM000680.2:g.31089507C>T	GRCh38
NC_000018.9:g.28669470C>T , CM000680.1:g.28669470C>T	GRCh37
NC_000018.8:g.26923468C>T	NCBI36
NG_008208.2:g.17919G>A , LRG_400:g.17919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.133G>A	ENSP00000507826.1:p.Val45Met
ENST00000251081.8:c.562G>A	ENSP00000251081.6:p.Val188Met
ENST00000280904.11:c.562G>A MANE Select	ENSP00000280904.6:p.Val188Met
ENST00000648081.1:c.133G>A	ENSP00000497441.1:p.Val45Met
ENST00000251081.6:c.562G>A	ENSP00000251081.6:p.Val188Met
ENST00000280904.10:c.562G>A	ENSP00000280904.6:p.Val188Met
NM_004949.4:c.562G>A	NP_004940.1:p.Val188Met
NM_024422.4:c.562G>A	NP_077740.1:p.Val188Met
XM_005258206.3:c.133G>A	XP_005258263.1:p.Val45Met
XM_005258206.4:c.133G>A	XP_005258263.1:p.Val45Met
NM_004949.5:c.562G>A	NP_004940.1:p.Val188Met
NM_024422.6:c.562G>A MANE Select	NP_077740.1:p.Val188Met