Canonical Allele Identifier: CA297703300
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 892057
ClinVar RCV Id: RCV001127797
dbSNP Id: rs961192815
gnomAD v2: 18-29127512-C-T
gnomAD v3: 18-31547549-C-T
gnomAD v4: 18-31547549-C-T
MyVariant Identifiers: chr18:g.29127512C>T (hg19) chr18:g.31547549C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547549C>T , CM000680.2:g.31547549C>T GRCh38
NC_000018.9:g.29127512C>T , CM000680.1:g.29127512C>T GRCh37
NC_000018.8:g.27381510C>T NCBI36
NG_007072.3:g.54308C>T , LRG_397:g.54308C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.*806C>T (DSG2) MANE Select ENSP00000261590.8:n.*806C>T
ENST00000261590.12:c.*806C>T (DSG2) ENSP00000261590.8:n.*806C>T
NM_001943.3:c.*806C>T , LRG_397t1:c.*806C>T (DSG2) NP_001934.2:n.*806C>T
NR_045216.1:n.1346-1643G>A (DSG2-AS1)
NM_001943.4:c.*806C>T (DSG2) NP_001934.2:n.*806C>T
NM_001943.5:c.*806C>T (DSG2) MANE Select NP_001934.2:n.*806C>T
Search 100 bp 5'
Search 100 bp 3'