Canonical Allele Identifier: CA16620680
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419603
dbSNP Id: rs1064793983

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545735C>A , CM000680.2:g.31545735C>A GRCh38
NC_000018.9:g.29125698C>A , CM000680.1:g.29125698C>A GRCh37
NC_000018.8:g.27379696C>A NCBI36
NG_007072.3:g.52494C>A , LRG_397:g.52494C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2349C>A (DSG2) MANE Select ENSP00000261590.8:p.Tyr783Ter
ENST00000261590.12:c.2349C>A (DSG2) ENSP00000261590.8:p.Tyr783Ter
NM_001943.3:c.2349C>A , LRG_397t1:c.2349C>A (DSG2) NP_001934.2:p.Tyr783Ter
NR_045216.1:n.1516+1G>T (DSG2-AS1)
NM_001943.4:c.2349C>A (DSG2) NP_001934.2:p.Tyr783Ter
XM_024451095.1:c.1815C>A (DSG2) XP_024306863.1:p.Tyr605Ter
NM_001943.5:c.2349C>A (DSG2) MANE Select NP_001934.2:p.Tyr783Ter