Canonical Allele Identifier: CA047013
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 629574
ClinVar RCV Id: RCV000774283 RCV001873141 RCV002477767 RCV004001380
dbSNP Id: rs771675609
ExAC: 18:29126076 A / C
gnomAD v2: 18-29126076-A-C
gnomAD v4: 18-31546113-A-C
MyVariant Identifiers: chr18:g.29126076A>C (hg19) chr18:g.31546113A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546113A>C , CM000680.2:g.31546113A>C GRCh38
NC_000018.9:g.29126076A>C , CM000680.1:g.29126076A>C GRCh37
NC_000018.8:g.27380074A>C NCBI36
NG_007072.3:g.52872A>C , LRG_397:g.52872A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2727A>C (DSG2) MANE Select ENSP00000261590.8:p.Glu909Asp
ENST00000261590.12:c.2727A>C (DSG2) ENSP00000261590.8:p.Glu909Asp
NM_001943.3:c.2727A>C , LRG_397t1:c.2727A>C (DSG2) NP_001934.2:p.Glu909Asp
NR_045216.1:n.1346-207T>G (DSG2-AS1)
NM_001943.4:c.2727A>C (DSG2) NP_001934.2:p.Glu909Asp
XM_024451095.1:c.2193A>C (DSG2) XP_024306863.1:p.Glu731Asp
NM_001943.5:c.2727A>C (DSG2) MANE Select NP_001934.2:p.Glu909Asp
Search 100 bp 5'
Search 100 bp 3'