Canonical Allele Identifier: CA038941
Gene: DSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372720
ClinVar RCV Id: RCV000413449 RCV001183814 RCV001209186
dbSNP Id: rs758527425
ExAC: 18:28669424 C / T
gnomAD v2: 18-28669424-C-T
gnomAD v3: 18-31089461-C-T
gnomAD v4: 18-31089461-C-T
MyVariant Identifiers: chr18:g.28669424C>T (hg19) chr18:g.31089461C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089461C>T , CM000680.2:g.31089461C>T GRCh38
NC_000018.9:g.28669424C>T , CM000680.1:g.28669424C>T GRCh37
NC_000018.8:g.26923422C>T NCBI36
NG_008208.2:g.17965G>A , LRG_400:g.17965G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.179G>A ENSP00000507826.1:p.Arg60His
ENST00000251081.8:c.608G>A ENSP00000251081.6:p.Arg203His
ENST00000280904.11:c.608G>A MANE Select ENSP00000280904.6:p.Arg203His
ENST00000648081.1:c.179G>A ENSP00000497441.1:p.Arg60His
ENST00000251081.6:c.608G>A ENSP00000251081.6:p.Arg203His
ENST00000280904.10:c.608G>A ENSP00000280904.6:p.Arg203His
NM_004949.4:c.608G>A NP_004940.1:p.Arg203His
NM_024422.4:c.608G>A NP_077740.1:p.Arg203His
XM_005258206.3:c.179G>A XP_005258263.1:p.Arg60His
XM_005258206.4:c.179G>A XP_005258263.1:p.Arg60His
NM_004949.5:c.608G>A NP_004940.1:p.Arg203His
NM_024422.6:c.608G>A MANE Select NP_077740.1:p.Arg203His
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