Canonical Allele Identifier: CA10650709

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326363
• ClinVar RCV Id: RCV000332085
• dbSNP Id: rs180728052
• gnomAD v2: 18-28646506-C-G
• gnomAD v3: 18-31066540-C-G
• gnomAD v4: 18-31066540-C-G
• MyVariant Identifiers: chr18:g.28646506C>G (hg19) ; chr18:g.31066540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31066540C>G , CM000680.2:g.31066540C>G	GRCh38
NC_000018.9:g.28646506C>G , CM000680.1:g.28646506C>G	GRCh37
NC_000018.8:g.26900504C>G	NCBI36
NG_008208.2:g.40886G>C , LRG_400:g.40886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*1475G>C	ENSP00000507826.1:n.*1475G>C
ENST00000251081.8:c.*1683G>C	ENSP00000251081.6:n.*1683G>C
ENST00000280904.11:c.*1475G>C MANE Select	ENSP00000280904.6:n.*1475G>C
ENST00000648081.1:c.*1475G>C	ENSP00000497441.1:n.*1475G>C
ENST00000251081.6:c.*1683G>C	ENSP00000251081.6:n.*1683G>C
ENST00000280904.10:c.*1475G>C	ENSP00000280904.6:n.*1475G>C
NM_004949.4:c.*1683G>C	NP_004940.1:n.*1683G>C
NM_024422.4:c.*1475G>C	NP_077740.1:n.*1475G>C
XM_005258206.3:c.*1475G>C	XP_005258263.1:n.*1475G>C
XM_005258206.4:c.*1475G>C	XP_005258263.1:n.*1475G>C
NM_004949.5:c.*1683G>C	NP_004940.1:n.*1683G>C
NM_024422.6:c.*1475G>C MANE Select	NP_077740.1:n.*1475G>C