Canonical Allele Identifier: CA035526

Gene: DSC2

Linked Data

• ClinVar Variation Id: 2274200
• ClinVar RCV Id: RCV002812863
• dbSNP Id: rs752499852
• ExAC: 18:28650705 C / T
• gnomAD v2: 18-28650705-C-T
• gnomAD v3: 18-31070739-C-T
• gnomAD v4: 18-31070739-C-T
• MyVariant Identifiers: chr18:g.28650705C>T (hg19) ; chr18:g.31070739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070739C>T , CM000680.2:g.31070739C>T	GRCh38
NC_000018.9:g.28650705C>T , CM000680.1:g.28650705C>T	GRCh37
NC_000018.8:g.26904703C>T	NCBI36
NG_008208.2:g.36687G>A , LRG_400:g.36687G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.1808G>A	ENSP00000507826.1:p.Gly603Glu
ENST00000251081.8:c.2237G>A	ENSP00000251081.6:p.Gly746Glu
ENST00000280904.11:c.2237G>A MANE Select	ENSP00000280904.6:p.Gly746Glu
ENST00000648081.1:c.1808G>A	ENSP00000497441.1:p.Gly603Glu
ENST00000251081.6:c.2237G>A	ENSP00000251081.6:p.Gly746Glu
ENST00000280904.10:c.2237G>A	ENSP00000280904.6:p.Gly746Glu
NM_004949.4:c.2237G>A	NP_004940.1:p.Gly746Glu
NM_024422.4:c.2237G>A	NP_077740.1:p.Gly746Glu
XM_005258206.3:c.1808G>A	XP_005258263.1:p.Gly603Glu
XM_005258206.4:c.1808G>A	XP_005258263.1:p.Gly603Glu
NM_004949.5:c.2237G>A	NP_004940.1:p.Gly746Glu
NM_024422.6:c.2237G>A MANE Select	NP_077740.1:p.Gly746Glu