Canonical Allele Identifier: CA10650771
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 326524
ClinVar RCV Id: RCV000284286 RCV000339434
dbSNP Id: rs191443311
gnomAD v2: 18-29127742-C-G
gnomAD v3: 18-31547779-C-G
gnomAD v4: 18-31547779-C-G
MyVariant Identifiers: chr18:g.29127742C>G (hg19) chr18:g.31547779C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547779C>G , CM000680.2:g.31547779C>G GRCh38
NC_000018.9:g.29127742C>G , CM000680.1:g.29127742C>G GRCh37
NC_000018.8:g.27381740C>G NCBI36
NG_007072.3:g.54538C>G , LRG_397:g.54538C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.*1036C>G (DSG2) MANE Select ENSP00000261590.8:n.*1036C>G
ENST00000261590.12:c.*1036C>G (DSG2) ENSP00000261590.8:n.*1036C>G
NM_001943.3:c.*1036C>G , LRG_397t1:c.*1036C>G (DSG2) NP_001934.2:n.*1036C>G
NR_045216.1:n.1346-1873G>C (DSG2-AS1)
NM_001943.4:c.*1036C>G (DSG2) NP_001934.2:n.*1036C>G
NM_001943.5:c.*1036C>G (DSG2) MANE Select NP_001934.2:n.*1036C>G
Search 100 bp 5'
Search 100 bp 3'