Canonical Allele Identifier: CA913188921
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 629408
ClinVar RCV Id: RCV000774114
dbSNP Id: rs1567935108

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546497del , CM000680.2:g.31546497del GRCh38
NC_000018.9:g.29126460del , CM000680.1:g.29126460del GRCh37
NC_000018.8:g.27380458del NCBI36
NG_007072.3:g.53256del , LRG_397:g.53256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3111del (DSG2) MANE Select ENSP00000261590.8:p.Asn1037LysfsTer2
ENST00000261590.12:c.3111del (DSG2) ENSP00000261590.8:p.Asn1037LysfsTer2
NM_001943.3:c.3111del , LRG_397t1:c.3111del (DSG2) NP_001934.2:p.Asn1037LysfsTer2
NR_045216.1:n.1346-591del (DSG2-AS1)
NM_001943.4:c.3111del (DSG2) NP_001934.2:p.Asn1037LysfsTer2
XM_024451095.1:c.2577del (DSG2) XP_024306863.1:p.Asn859LysfsTer2
NM_001943.5:c.3111del (DSG2) MANE Select NP_001934.2:p.Asn1037LysfsTer2