Canonical Allele Identifier: CA402113672

Gene: DSC2

Linked Data

• gnomAD v4: 18-31089545-C-T
• MyVariant Identifiers: chr18:g.28669508C>T (hg19) ; chr18:g.31089545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089545C>T , CM000680.2:g.31089545C>T	GRCh38
NC_000018.9:g.28669508C>T , CM000680.1:g.28669508C>T	GRCh37
NC_000018.8:g.26923506C>T	NCBI36
NG_008208.2:g.17881G>A , LRG_400:g.17881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.95G>A	ENSP00000507826.1:p.Gly32Asp
ENST00000251081.8:c.524G>A	ENSP00000251081.6:p.Gly175Asp
ENST00000280904.11:c.524G>A MANE Select	ENSP00000280904.6:p.Gly175Asp
ENST00000648081.1:c.95G>A	ENSP00000497441.1:p.Gly32Asp
ENST00000251081.6:c.524G>A	ENSP00000251081.6:p.Gly175Asp
ENST00000280904.10:c.524G>A	ENSP00000280904.6:p.Gly175Asp
NM_004949.4:c.524G>A	NP_004940.1:p.Gly175Asp
NM_024422.4:c.524G>A	NP_077740.1:p.Gly175Asp
XM_005258206.3:c.95G>A	XP_005258263.1:p.Gly32Asp
XM_005258206.4:c.95G>A	XP_005258263.1:p.Gly32Asp
NM_004949.5:c.524G>A	NP_004940.1:p.Gly175Asp
NM_024422.6:c.524G>A MANE Select	NP_077740.1:p.Gly175Asp