Canonical Allele Identifier: CA021669
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199791
ClinVar RCV Id: RCV000181188 RCV003631095
dbSNP Id: rs794728081
gnomAD v4: 18-31542630-T-G
MyVariant Identifiers: chr18:g.29122593T>G (hg19) chr18:g.31542630T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542630T>G , CM000680.2:g.31542630T>G GRCh38
NC_000018.9:g.29122593T>G , CM000680.1:g.29122593T>G GRCh37
NC_000018.8:g.27376591T>G NCBI36
NG_007072.3:g.49389T>G , LRG_397:g.49389T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2112T>G (DSG2) MANE Select ENSP00000261590.8:p.Ile704Met
ENST00000261590.12:c.2112T>G (DSG2) ENSP00000261590.8:p.Ile704Met
NM_001943.3:c.2112T>G , LRG_397t1:c.2112T>G (DSG2) NP_001934.2:p.Ile704Met
NR_045216.1:n.1811-309A>C (DSG2-AS1)
NM_001943.4:c.2112T>G (DSG2) NP_001934.2:p.Ile704Met
XM_024451095.1:c.1578T>G (DSG2) XP_024306863.1:p.Ile526Met
NM_001943.5:c.2112T>G (DSG2) MANE Select NP_001934.2:p.Ile704Met
Search 100 bp 5'
Search 100 bp 3'