Canonical Allele Identifier: CA045155
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222564
ClinVar RCV Id: RCV000208434 RCV001192093 RCV001371736 RCV003298271 RCV003997674
dbSNP Id: rs780650226
ExAC: 18:29122669 A / G
gnomAD v2: 18-29122669-A-G
gnomAD v4: 18-31542706-A-G
MyVariant Identifiers: chr18:g.29122669A>G (hg19) chr18:g.31542706A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542706A>G , CM000680.2:g.31542706A>G GRCh38
NC_000018.9:g.29122669A>G , CM000680.1:g.29122669A>G GRCh37
NC_000018.8:g.27376667A>G NCBI36
NG_007072.3:g.49465A>G , LRG_397:g.49465A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2188A>G (DSG2) MANE Select ENSP00000261590.8:p.Thr730Ala
ENST00000261590.12:c.2188A>G (DSG2) ENSP00000261590.8:p.Thr730Ala
NM_001943.3:c.2188A>G , LRG_397t1:c.2188A>G (DSG2) NP_001934.2:p.Thr730Ala
NR_045216.1:n.1811-385T>C (DSG2-AS1)
NM_001943.4:c.2188A>G (DSG2) NP_001934.2:p.Thr730Ala
XM_024451095.1:c.1654A>G (DSG2) XP_024306863.1:p.Thr552Ala
NM_001943.5:c.2188A>G (DSG2) MANE Select NP_001934.2:p.Thr730Ala
Search 100 bp 5'
Search 100 bp 3'