Canonical Allele Identifier: CA045411
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927723
ClinVar RCV Id: RCV001191206 RCV004010491
dbSNP Id: rs754351622
ExAC: 18:29122768 G / A
gnomAD v2: 18-29122768-G-A
gnomAD v4: 18-31542805-G-A
MyVariant Identifiers: chr18:g.29122768G>A (hg19) chr18:g.31542805G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542805G>A , CM000680.2:g.31542805G>A GRCh38
NC_000018.9:g.29122768G>A , CM000680.1:g.29122768G>A GRCh37
NC_000018.8:g.27376766G>A NCBI36
NG_007072.3:g.49564G>A , LRG_397:g.49564G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2287G>A (DSG2) MANE Select ENSP00000261590.8:p.Ala763Thr
ENST00000261590.12:c.2287G>A (DSG2) ENSP00000261590.8:p.Ala763Thr
NM_001943.3:c.2287G>A , LRG_397t1:c.2287G>A (DSG2) NP_001934.2:p.Ala763Thr
NR_045216.1:n.1810+297C>T (DSG2-AS1)
NM_001943.4:c.2287G>A (DSG2) NP_001934.2:p.Ala763Thr
XM_024451095.1:c.1753G>A (DSG2) XP_024306863.1:p.Ala585Thr
NM_001943.5:c.2287G>A (DSG2) MANE Select NP_001934.2:p.Ala763Thr
Search 100 bp 5'
Search 100 bp 3'