Canonical Allele Identifier: CA10647425

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326385
• ClinVar RCV Id: RCV000279468
• dbSNP Id: rs59914360
• gnomAD v2: 18-28647402-A-G
• gnomAD v3: 18-31067436-A-G
• gnomAD v4: 18-31067436-A-G
• MyVariant Identifiers: chr18:g.28647402A>G (hg19) ; chr18:g.31067436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067436A>G , CM000680.2:g.31067436A>G	GRCh38
NC_000018.9:g.28647402A>G , CM000680.1:g.28647402A>G	GRCh37
NC_000018.8:g.26901400A>G	NCBI36
NG_008208.2:g.39990T>C , LRG_400:g.39990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*579T>C	ENSP00000507826.1:n.*579T>C
ENST00000251081.8:c.*787T>C	ENSP00000251081.6:n.*787T>C
ENST00000280904.11:c.*579T>C MANE Select	ENSP00000280904.6:n.*579T>C
ENST00000648081.1:c.*579T>C	ENSP00000497441.1:n.*579T>C
ENST00000251081.6:c.*787T>C	ENSP00000251081.6:n.*787T>C
ENST00000280904.10:c.*579T>C	ENSP00000280904.6:n.*579T>C
NM_004949.4:c.*787T>C	NP_004940.1:n.*787T>C
NM_024422.4:c.*579T>C	NP_077740.1:n.*579T>C
XM_005258206.3:c.*579T>C	XP_005258263.1:n.*579T>C
XM_005258206.4:c.*579T>C	XP_005258263.1:n.*579T>C
NM_004949.5:c.*787T>C	NP_004940.1:n.*787T>C
NM_024422.6:c.*579T>C MANE Select	NP_077740.1:n.*579T>C