Canonical Allele Identifier: CA402113560

Gene: DSC2

Linked Data

• ClinVar Variation Id: 1311229
• ClinVar RCV Id: RCV001758738
• dbSNP Id: rs2144838855
• MyVariant Identifiers: chr18:g.28669460T>C (hg19) ; chr18:g.31089497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089497T>C , CM000680.2:g.31089497T>C	GRCh38
NC_000018.9:g.28669460T>C , CM000680.1:g.28669460T>C	GRCh37
NC_000018.8:g.26923458T>C	NCBI36
NG_008208.2:g.17929A>G , LRG_400:g.17929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.143A>G	ENSP00000507826.1:p.Asp48Gly
ENST00000251081.8:c.572A>G	ENSP00000251081.6:p.Asp191Gly
ENST00000280904.11:c.572A>G MANE Select	ENSP00000280904.6:p.Asp191Gly
ENST00000648081.1:c.143A>G	ENSP00000497441.1:p.Asp48Gly
ENST00000251081.6:c.572A>G	ENSP00000251081.6:p.Asp191Gly
ENST00000280904.10:c.572A>G	ENSP00000280904.6:p.Asp191Gly
NM_004949.4:c.572A>G	NP_004940.1:p.Asp191Gly
NM_024422.4:c.572A>G	NP_077740.1:p.Asp191Gly
XM_005258206.3:c.143A>G	XP_005258263.1:p.Asp48Gly
XM_005258206.4:c.143A>G	XP_005258263.1:p.Asp48Gly
NM_004949.5:c.572A>G	NP_004940.1:p.Asp191Gly
NM_024422.6:c.572A>G MANE Select	NP_077740.1:p.Asp191Gly