Canonical Allele Identifier: CA402145943
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684805
ClinVar RCV Id: RCV000845373
dbSNP Id: rs1598826780
gnomAD v4: 18-31546045-A-G
MyVariant Identifiers: chr18:g.29126008A>G (hg19) chr18:g.31546045A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546045A>G , CM000680.2:g.31546045A>G GRCh38
NC_000018.9:g.29126008A>G , CM000680.1:g.29126008A>G GRCh37
NC_000018.8:g.27380006A>G NCBI36
NG_007072.3:g.52804A>G , LRG_397:g.52804A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2659A>G (DSG2) MANE Select ENSP00000261590.8:p.Ser887Gly
ENST00000261590.12:c.2659A>G (DSG2) ENSP00000261590.8:p.Ser887Gly
NM_001943.3:c.2659A>G , LRG_397t1:c.2659A>G (DSG2) NP_001934.2:p.Ser887Gly
NR_045216.1:n.1346-139T>C (DSG2-AS1)
NM_001943.4:c.2659A>G (DSG2) NP_001934.2:p.Ser887Gly
XM_024451095.1:c.2125A>G (DSG2) XP_024306863.1:p.Ser709Gly
NM_001943.5:c.2659A>G (DSG2) MANE Select NP_001934.2:p.Ser887Gly
Search 100 bp 5'
Search 100 bp 3'