Canonical Allele Identifier: CA988895299

Gene: DSC2

Linked Data

• ClinVar Variation Id: 1599980
• ClinVar RCV Id: RCV002132072 ; RCV004005396
• dbSNP Id: rs1987283946
• gnomAD v3: 18-31083068-C-CA
• gnomAD v4: 18-31083068-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31083075dup , CM000680.2:g.31083075dup	GRCh38
NC_000018.9:g.28663041dup , CM000680.1:g.28663041dup	GRCh37
NC_000018.8:g.26917039dup	NCBI36
NG_008208.2:g.24357dup , LRG_400:g.24357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.514-9dup	ENSP00000507826.1:n.514-9dup
ENST00000251081.8:c.943-9dup	ENSP00000251081.6:n.943-9dup
ENST00000280904.11:c.943-9dup MANE Select	ENSP00000280904.6:n.943-9dup
ENST00000648081.1:c.514-9dup	ENSP00000497441.1:n.514-9dup
ENST00000251081.6:c.943-9dup	ENSP00000251081.6:n.943-9dup
ENST00000280904.10:c.943-9dup	ENSP00000280904.6:n.943-9dup
NM_004949.4:c.943-9dup	NP_004940.1:n.943-9dup
NM_024422.4:c.943-9dup	NP_077740.1:n.943-9dup
XM_005258206.3:c.514-9dup	XP_005258263.1:n.514-9dup
XM_005258206.4:c.514-9dup	XP_005258263.1:n.514-9dup
NM_004949.5:c.943-9dup	NP_004940.1:n.943-9dup
NM_024422.6:c.943-9dup MANE Select	NP_077740.1:n.943-9dup