Canonical Allele Identifier: CA10641389
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 326525
ClinVar RCV Id: RCV000400692
dbSNP Id: rs183684674
gnomAD v2: 18-29127777-T-C
gnomAD v3: 18-31547814-T-C
gnomAD v4: 18-31547814-T-C
MyVariant Identifiers: chr18:g.29127777T>C (hg19) chr18:g.31547814T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547814T>C , CM000680.2:g.31547814T>C GRCh38
NC_000018.9:g.29127777T>C , CM000680.1:g.29127777T>C GRCh37
NC_000018.8:g.27381775T>C NCBI36
NG_007072.3:g.54573T>C , LRG_397:g.54573T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.*1071T>C (DSG2) MANE Select ENSP00000261590.8:n.*1071T>C
ENST00000261590.12:c.*1071T>C (DSG2) ENSP00000261590.8:n.*1071T>C
NM_001943.3:c.*1071T>C , LRG_397t1:c.*1071T>C (DSG2) NP_001934.2:n.*1071T>C
NR_045216.1:n.1346-1908A>G (DSG2-AS1)
NM_001943.4:c.*1071T>C (DSG2) NP_001934.2:n.*1071T>C
NM_001943.5:c.*1071T>C (DSG2) MANE Select NP_001934.2:n.*1071T>C
Search 100 bp 5'
Search 100 bp 3'