Canonical Allele Identifier: CA044792
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570467
ClinVar RCV Id: RCV000691323 RCV001186672 RCV002422497 RCV003999556
dbSNP Id: rs375595872
ExAC: 18:29122560 A / C
gnomAD v2: 18-29122560-A-C
gnomAD v3: 18-31542597-A-C
gnomAD v4: 18-31542597-A-C
MyVariant Identifiers: chr18:g.29122560A>C (hg19) chr18:g.31542597A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542597A>C , CM000680.2:g.31542597A>C GRCh38
NC_000018.9:g.29122560A>C , CM000680.1:g.29122560A>C GRCh37
NC_000018.8:g.27376558A>C NCBI36
NG_007072.3:g.49356A>C , LRG_397:g.49356A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2079A>C (DSG2) MANE Select ENSP00000261590.8:p.Glu693Asp
ENST00000261590.12:c.2079A>C (DSG2) ENSP00000261590.8:p.Glu693Asp
NM_001943.3:c.2079A>C , LRG_397t1:c.2079A>C (DSG2) NP_001934.2:p.Glu693Asp
NR_045216.1:n.1811-276T>G (DSG2-AS1)
NM_001943.4:c.2079A>C (DSG2) NP_001934.2:p.Glu693Asp
XM_024451095.1:c.1545A>C (DSG2) XP_024306863.1:p.Glu515Asp
NM_001943.5:c.2079A>C (DSG2) MANE Select NP_001934.2:p.Glu693Asp
Search 100 bp 5'
Search 100 bp 3'