Canonical Allele Identifier: CA021817
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 192185
ClinVar RCV Id: RCV000172747 RCV000769515
dbSNP Id: rs200691513
ExAC: 18:29125917 A / C
gnomAD v2: 18-29125917-A-C
gnomAD v3: 18-31545954-A-C
gnomAD v4: 18-31545954-A-C
COSMIC: COSM5037747
MyVariant Identifiers: chr18:g.29125917A>C (hg19) chr18:g.31545954A>C (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545954A>C , CM000680.2:g.31545954A>C GRCh38
NC_000018.9:g.29125917A>C , CM000680.1:g.29125917A>C GRCh37
NC_000018.8:g.27379915A>C NCBI36
NG_007072.3:g.52713A>C , LRG_397:g.52713A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2568A>C (DSG2) MANE Select ENSP00000261590.8:p.Lys856Asn
ENST00000261590.12:c.2568A>C (DSG2) ENSP00000261590.8:p.Lys856Asn
NM_001943.3:c.2568A>C , LRG_397t1:c.2568A>C (DSG2) NP_001934.2:p.Lys856Asn
NR_045216.1:n.1346-48T>G (DSG2-AS1)
NM_001943.4:c.2568A>C (DSG2) NP_001934.2:p.Lys856Asn
XM_024451095.1:c.2034A>C (DSG2) XP_024306863.1:p.Lys678Asn
NM_001943.5:c.2568A>C (DSG2) MANE Select NP_001934.2:p.Lys856Asn
Search 100 bp 5'
Search 100 bp 3'