Canonical Allele Identifier: CA1139665992

Gene: DSC2

Linked Data

• ClinVar Variation Id: 892476
• ClinVar RCV Id: RCV001128530
• dbSNP Id: rs1986657464
• gnomAD v4: 18-31067323-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067323T>C , CM000680.2:g.31067323T>C	GRCh38
NC_000018.9:g.28647289T>C , CM000680.1:g.28647289T>C	GRCh37
NC_000018.8:g.26901287T>C	NCBI36
NG_008208.2:g.40103A>G , LRG_400:g.40103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*692A>G	ENSP00000507826.1:n.*692A>G
ENST00000251081.8:c.*900A>G	ENSP00000251081.6:n.*900A>G
ENST00000280904.11:c.*692A>G MANE Select	ENSP00000280904.6:n.*692A>G
ENST00000648081.1:c.*692A>G	ENSP00000497441.1:n.*692A>G
ENST00000251081.6:c.*900A>G	ENSP00000251081.6:n.*900A>G
ENST00000280904.10:c.*692A>G	ENSP00000280904.6:n.*692A>G
NM_004949.4:c.*900A>G	NP_004940.1:n.*900A>G
NM_024422.4:c.*692A>G	NP_077740.1:n.*692A>G
XM_005258206.3:c.*692A>G	XP_005258263.1:n.*692A>G
XM_005258206.4:c.*692A>G	XP_005258263.1:n.*692A>G
NM_004949.5:c.*900A>G	NP_004940.1:n.*900A>G
NM_024422.6:c.*692A>G MANE Select	NP_077740.1:n.*692A>G