Canonical Allele Identifier: CA022856
Gene: DSC2 HGNC NCBI
DSCAS HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31101968C>T
GRCh37 chr18:g.28681931C>T
Revel Score:
ENST00000251081 0.257
ENST00000280904 (MANE Select) 0.257
ENST00000399347 0.257
gnomAD v2:
18:28681931 C / T
gnomAD v3:
18:31101968 C / T
gnomAD v4:
chr18-31101968-C-T
Joint Max Group AF 0.00006864 (NFE)
Genomes Max Group AF 0.00004766 (NFE)
Exomes Max Group AF 0.00006729 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31101968C>T , CM000680.2:g.31101968C>T GRCh38
NC_000018.9:g.28681931C>T , CM000680.1:g.28681931C>T GRCh37
NC_000018.8:g.26935929C>T NCBI36
NG_008208.2:g.5458G>A , LRG_400:g.5458G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.-361+468G>A (DSC2) ENSP00000507826.1:n.-361+468G>A
ENST00000251081.8:c.4G>A (DSC2) ENSP00000251081.6:p.Glu2Lys
ENST00000280904.11:c.4G>A (DSC2) MANE Select ENSP00000280904.6:p.Glu2Lys
ENST00000648081.1:c.-398+468G>A (DSC2) ENSP00000497441.1:n.-398+468G>A
ENST00000251081.6:c.4G>A (DSC2) ENSP00000251081.6:p.Glu2Lys
ENST00000280904.10:c.4G>A (DSC2) ENSP00000280904.6:p.Glu2Lys
NM_004949.4:c.4G>A (DSC2) NP_004940.1:p.Glu2Lys
NM_024422.4:c.4G>A (DSC2) NP_077740.1:p.Glu2Lys
NR_110785.1:n.136+245C>T (DSCAS)
NM_004949.5:c.4G>A (DSC2) NP_004940.1:p.Glu2Lys
NM_024422.6:c.4G>A (DSC2) MANE Select NP_077740.1:p.Glu2Lys
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