Canonical Allele Identifier: CA10651504

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326377
• ClinVar RCV Id: RCV000307160
• dbSNP Id: rs886053689
• MyVariant Identifiers: chr18:g.28647148C>G (hg19) ; chr18:g.31067182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067182C>G , CM000680.2:g.31067182C>G	GRCh38
NC_000018.9:g.28647148C>G , CM000680.1:g.28647148C>G	GRCh37
NC_000018.8:g.26901146C>G	NCBI36
NG_008208.2:g.40244G>C , LRG_400:g.40244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*833G>C	ENSP00000507826.1:n.*833G>C
ENST00000251081.8:c.*1041G>C	ENSP00000251081.6:n.*1041G>C
ENST00000280904.11:c.*833G>C MANE Select	ENSP00000280904.6:n.*833G>C
ENST00000648081.1:c.*833G>C	ENSP00000497441.1:n.*833G>C
ENST00000251081.6:c.*1041G>C	ENSP00000251081.6:n.*1041G>C
ENST00000280904.10:c.*833G>C	ENSP00000280904.6:n.*833G>C
NM_004949.4:c.*1041G>C	NP_004940.1:n.*1041G>C
NM_024422.4:c.*833G>C	NP_077740.1:n.*833G>C
XM_005258206.3:c.*833G>C	XP_005258263.1:n.*833G>C
XM_005258206.4:c.*833G>C	XP_005258263.1:n.*833G>C
NM_004949.5:c.*1041G>C	NP_004940.1:n.*1041G>C
NM_024422.6:c.*833G>C MANE Select	NP_077740.1:n.*833G>C