Canonical Allele Identifier: CA402141835
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171375
ClinVar RCV Id: RCV001524432
dbSNP Id: rs1244546744
MyVariant Identifiers: chr18:g.29122598A>G (hg19) chr18:g.31542635A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542635A>G , CM000680.2:g.31542635A>G GRCh38
NC_000018.9:g.29122598A>G , CM000680.1:g.29122598A>G GRCh37
NC_000018.8:g.27376596A>G NCBI36
NG_007072.3:g.49394A>G , LRG_397:g.49394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2117A>G (DSG2) MANE Select ENSP00000261590.8:p.Lys706Arg
ENST00000261590.12:c.2117A>G (DSG2) ENSP00000261590.8:p.Lys706Arg
NM_001943.3:c.2117A>G , LRG_397t1:c.2117A>G (DSG2) NP_001934.2:p.Lys706Arg
NR_045216.1:n.1811-314T>C (DSG2-AS1)
NM_001943.4:c.2117A>G (DSG2) NP_001934.2:p.Lys706Arg
XM_024451095.1:c.1583A>G (DSG2) XP_024306863.1:p.Lys528Arg
NM_001943.5:c.2117A>G (DSG2) MANE Select NP_001934.2:p.Lys706Arg
Search 100 bp 5'
Search 100 bp 3'