Canonical Allele Identifier: CA044899
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920307
ClinVar RCV Id: RCV001178977
dbSNP Id: rs533874164
ExAC: 18:29122596 C / G
gnomAD v2: 18-29122596-C-G
gnomAD v3: 18-31542633-C-G
gnomAD v4: 18-31542633-C-G
MyVariant Identifiers: chr18:g.29122596C>G (hg19) chr18:g.31542633C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542633C>G , CM000680.2:g.31542633C>G GRCh38
NC_000018.9:g.29122596C>G , CM000680.1:g.29122596C>G GRCh37
NC_000018.8:g.27376594C>G NCBI36
NG_007072.3:g.49392C>G , LRG_397:g.49392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2115C>G (DSG2) MANE Select ENSP00000261590.8:p.Val705=
ENST00000261590.12:c.2115C>G (DSG2) ENSP00000261590.8:p.Val705=
NM_001943.3:c.2115C>G , LRG_397t1:c.2115C>G (DSG2) NP_001934.2:p.Val705=
NR_045216.1:n.1811-312G>C (DSG2-AS1)
NM_001943.4:c.2115C>G (DSG2) NP_001934.2:p.Val705=
XM_024451095.1:c.1581C>G (DSG2) XP_024306863.1:p.Val527=
NM_001943.5:c.2115C>G (DSG2) MANE Select NP_001934.2:p.Val705=
Search 100 bp 5'
Search 100 bp 3'