Canonical Allele Identifier: CA021499
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44283
ClinVar RCV Id: RCV000037268 RCV000168632 RCV000766865 RCV001034635 RCV001171307
dbSNP Id: rs200484060
ExAC: 18:29116333 T / G
gnomAD v2: 18-29116333-T-G
gnomAD v3: 18-31536370-T-G
gnomAD v4: 18-31536370-T-G
MyVariant Identifiers: chr18:g.29116333T>G (hg19) chr18:g.31536370T>G (hg38)
PubMed: PMID:18632414 PMID:23861362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536370T>G , CM000680.2:g.31536370T>G GRCh38
NC_000018.9:g.29116333T>G , CM000680.1:g.29116333T>G GRCh37
NC_000018.8:g.27370331T>G NCBI36
NG_007072.3:g.43129T>G , LRG_397:g.43129T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1592T>G MANE Select ENSP00000261590.8:p.Phe531Cys
ENST00000261590.12:c.1592T>G ENSP00000261590.8:p.Phe531Cys
NM_001943.3:c.1592T>G , LRG_397t1:c.1592T>G NP_001934.2:p.Phe531Cys
NM_001943.4:c.1592T>G NP_001934.2:p.Phe531Cys
XM_024451095.1:c.1058T>G XP_024306863.1:p.Phe353Cys
NM_001943.5:c.1592T>G MANE Select NP_001934.2:p.Phe531Cys
Search 100 bp 5'
Search 100 bp 3'