Canonical Allele Identifier: CA022011
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179429
ClinVar RCV Id: RCV000156218 RCV000171905 RCV000771354 RCV000952596 RCV001541501 RCV002321648
dbSNP Id: rs201786158
ExAC: 18:29126524 T / A
gnomAD v2: 18-29126524-T-A
gnomAD v3: 18-31546561-T-A
gnomAD v4: 18-31546561-T-A
MyVariant Identifiers: chr18:g.29126524T>A (hg19) chr18:g.31546561T>A (hg38)
PubMed: PMID:17372169 PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546561T>A , CM000680.2:g.31546561T>A GRCh38
NC_000018.9:g.29126524T>A , CM000680.1:g.29126524T>A GRCh37
NC_000018.8:g.27380522T>A NCBI36
NG_007072.3:g.53320T>A , LRG_397:g.53320T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3175T>A (DSG2) MANE Select ENSP00000261590.8:p.Ser1059Thr
ENST00000261590.12:c.3175T>A (DSG2) ENSP00000261590.8:p.Ser1059Thr
NM_001943.3:c.3175T>A , LRG_397t1:c.3175T>A (DSG2) NP_001934.2:p.Ser1059Thr
NR_045216.1:n.1346-655A>T (DSG2-AS1)
NM_001943.4:c.3175T>A (DSG2) NP_001934.2:p.Ser1059Thr
XM_024451095.1:c.2641T>A (DSG2) XP_024306863.1:p.Ser881Thr
NM_001943.5:c.3175T>A (DSG2) MANE Select NP_001934.2:p.Ser1059Thr
Search 100 bp 5'
Search 100 bp 3'