Canonical Allele Identifier: CA022023
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 178022
ClinVar RCV Id: RCV000154705 RCV000172531 RCV000621371 RCV000771264 RCV001079476 RCV002492583
dbSNP Id: rs149617776
ExAC: 18:29126558 C / T
gnomAD v2: 18-29126558-C-T
gnomAD v3: 18-31546595-C-T
gnomAD v4: 18-31546595-C-T
MyVariant Identifiers: chr18:g.29126558C>T (hg19) chr18:g.31546595C>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546595C>T , CM000680.2:g.31546595C>T GRCh38
NC_000018.9:g.29126558C>T , CM000680.1:g.29126558C>T GRCh37
NC_000018.8:g.27380556C>T NCBI36
NG_007072.3:g.53354C>T , LRG_397:g.53354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3209C>T (DSG2) MANE Select ENSP00000261590.8:p.Thr1070Met
ENST00000261590.12:c.3209C>T (DSG2) ENSP00000261590.8:p.Thr1070Met
NM_001943.3:c.3209C>T , LRG_397t1:c.3209C>T (DSG2) NP_001934.2:p.Thr1070Met
NR_045216.1:n.1346-689G>A (DSG2-AS1)
NM_001943.4:c.3209C>T (DSG2) NP_001934.2:p.Thr1070Met
XM_024451095.1:c.2675C>T (DSG2) XP_024306863.1:p.Thr892Met
NM_001943.5:c.3209C>T (DSG2) MANE Select NP_001934.2:p.Thr1070Met
Search 100 bp 5'
Search 100 bp 3'