Canonical Allele Identifier: CA032479

Gene: DSC2

Linked Data

• ClinVar Variation Id: 2084879
• ClinVar RCV Id: RCV003011363
• dbSNP Id: rs771726792
• ExAC: 18:28659818 T / C
• gnomAD v2: 18-28659818-T-C
• gnomAD v4: 18-31079852-T-C
• MyVariant Identifiers: chr18:g.28659818T>C (hg19) ; chr18:g.31079852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31079852T>C , CM000680.2:g.31079852T>C	GRCh38
NC_000018.9:g.28659818T>C , CM000680.1:g.28659818T>C	GRCh37
NC_000018.8:g.26913816T>C	NCBI36
NG_008208.2:g.27574A>G , LRG_400:g.27574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1229A>G	ENSP00000507826.1:p.Asp410Gly
ENST00000251081.8:c.1658A>G	ENSP00000251081.6:p.Asp553Gly
ENST00000280904.11:c.1658A>G MANE Select	ENSP00000280904.6:p.Asp553Gly
ENST00000648081.1:c.1229A>G	ENSP00000497441.1:p.Asp410Gly
ENST00000251081.6:c.1658A>G	ENSP00000251081.6:p.Asp553Gly
ENST00000280904.10:c.1658A>G	ENSP00000280904.6:p.Asp553Gly
NM_004949.4:c.1658A>G	NP_004940.1:p.Asp553Gly
NM_024422.4:c.1658A>G	NP_077740.1:p.Asp553Gly
XM_005258206.3:c.1229A>G	XP_005258263.1:p.Asp410Gly
XM_005258206.4:c.1229A>G	XP_005258263.1:p.Asp410Gly
NM_004949.5:c.1658A>G	NP_004940.1:p.Asp553Gly
NM_024422.6:c.1658A>G MANE Select	NP_077740.1:p.Asp553Gly