Canonical Allele Identifier: CA2499225130
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171493
ClinVar RCV Id: RCV001524675
dbSNP Id: rs1203247330

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546728_31546730del , CM000680.2:g.31546728_31546730del GRCh38
NC_000018.9:g.29126691_29126693del , CM000680.1:g.29126691_29126693del GRCh37
NC_000018.8:g.27380689_27380691del NCBI36
NG_007072.3:g.53487_53489del , LRG_397:g.53487_53489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3342_3344del (DSG2) MANE Select ENSP00000261590.8:p.Gln1114del
ENST00000261590.12:c.3342_3344del (DSG2) ENSP00000261590.8:p.Gln1114del
NM_001943.3:c.3342_3344del , LRG_397t1:c.3342_3344del (DSG2) NP_001934.2:p.Gln1114del
NR_045216.1:n.1346-822_1346-820del (DSG2-AS1)
NM_001943.4:c.3342_3344del (DSG2) NP_001934.2:p.Gln1114del
XM_024451095.1:c.2808_2810del (DSG2) XP_024306863.1:p.Gln936del
NM_001943.5:c.3342_3344del (DSG2) MANE Select NP_001934.2:p.Gln1114del