Canonical Allele Identifier: CA10641393
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 326533
dbSNP Id: rs15668

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31548273T>C , CM000680.2:g.31548273T>C GRCh38
NC_000018.9:g.29128236T>C , CM000680.1:g.29128236T>C GRCh37
NC_000018.8:g.27382234T>C NCBI36
NG_007072.3:g.55032T>C , LRG_397:g.55032T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.*1530T>C (DSG2) MANE Select ENSP00000261590.8:n.*1530T>C
ENST00000261590.12:c.*1530T>C (DSG2) ENSP00000261590.8:n.*1530T>C
NM_001943.3:c.*1530T>C , LRG_397t1:c.*1530T>C (DSG2) NP_001934.2:n.*1530T>C
NR_045216.1:n.1345+1765A>G (DSG2-AS1)
NM_001943.4:c.*1530T>C (DSG2) NP_001934.2:n.*1530T>C
NM_001943.5:c.*1530T>C (DSG2) MANE Select NP_001934.2:n.*1530T>C