Canonical Allele Identifier: CA297703011
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs530443827
gnomAD v3: 18-31547217-A-G
gnomAD v4: 18-31547217-A-G
MyVariant Identifiers: chr18:g.29127180A>G (hg19) chr18:g.31547217A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547217A>G , CM000680.2:g.31547217A>G GRCh38
NC_000018.9:g.29127180A>G , CM000680.1:g.29127180A>G GRCh37
NC_000018.8:g.27381178A>G NCBI36
NG_007072.3:g.53976A>G , LRG_397:g.53976A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.*474A>G (DSG2) MANE Select ENSP00000261590.8:n.*474A>G
ENST00000261590.12:c.*474A>G (DSG2) ENSP00000261590.8:n.*474A>G
NM_001943.3:c.*474A>G , LRG_397t1:c.*474A>G (DSG2) NP_001934.2:n.*474A>G
NR_045216.1:n.1346-1311T>C (DSG2-AS1)
NM_001943.4:c.*474A>G (DSG2) NP_001934.2:n.*474A>G
XM_024451095.1:c.*474A>G (DSG2) XP_024306863.1:n.*474A>G
NM_001943.5:c.*474A>G (DSG2) MANE Select NP_001934.2:n.*474A>G
Search 100 bp 5'
Search 100 bp 3'