Canonical Allele Identifier: CA035749

Gene: DSC2

Linked Data

• ClinVar Variation Id: 382352
• ClinVar RCV Id: RCV000433894 ; RCV002062488
• dbSNP Id: rs779900062
• ExAC: 18:28649137 C / T
• gnomAD v2: 18-28649137-C-T
• gnomAD v3: 18-31069171-C-T
• gnomAD v4: 18-31069171-C-T
• MyVariant Identifiers: chr18:g.28649137C>T (hg19) ; chr18:g.31069171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31069171C>T , CM000680.2:g.31069171C>T	GRCh38
NC_000018.9:g.28649137C>T , CM000680.1:g.28649137C>T	GRCh37
NC_000018.8:g.26903135C>T	NCBI36
NG_008208.2:g.38255G>A , LRG_400:g.38255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1822-20G>A	ENSP00000507826.1:n.1822-20G>A
ENST00000251081.8:c.2251-20G>A	ENSP00000251081.6:n.2251-20G>A
ENST00000280904.11:c.2251-20G>A MANE Select	ENSP00000280904.6:n.2251-20G>A
ENST00000648081.1:c.1822-20G>A	ENSP00000497441.1:n.1822-20G>A
ENST00000251081.6:c.2251-20G>A	ENSP00000251081.6:n.2251-20G>A
ENST00000280904.10:c.2251-20G>A	ENSP00000280904.6:n.2251-20G>A
NM_004949.4:c.2251-20G>A	NP_004940.1:n.2251-20G>A
NM_024422.4:c.2251-20G>A	NP_077740.1:n.2251-20G>A
XM_005258206.3:c.1822-20G>A	XP_005258263.1:n.1822-20G>A
XM_005258206.4:c.1822-20G>A	XP_005258263.1:n.1822-20G>A
NM_004949.5:c.2251-20G>A	NP_004940.1:n.2251-20G>A
NM_024422.6:c.2251-20G>A MANE Select	NP_077740.1:n.2251-20G>A