Canonical Allele Identifier: CA10647454
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 326466
ClinVar RCV Id: RCV000362373
dbSNP Id: rs552915392
gnomAD v2: 18-29078136-C-G
gnomAD v3: 18-31498173-C-G
gnomAD v4: 18-31498173-C-G
MyVariant Identifiers: chr18:g.29078136C>G (hg19) chr18:g.31498173C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498173C>G , CM000680.2:g.31498173C>G GRCh38
NC_000018.9:g.29078136C>G , CM000680.1:g.29078136C>G GRCh37
NC_000018.8:g.27332134C>G NCBI36
NG_007072.3:g.4932C>G , LRG_397:g.4932C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.12:c.-79C>G ENSP00000261590.8:n.-79C>G
NM_001943.3:c.-79C>G , LRG_397t1:c.-79C>G NP_001934.2:n.-79C>G
NM_001943.4:c.-79C>G NP_001934.2:n.-79C>G
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