Canonical Allele Identifier: CA629453713
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1222837598
gnomAD v2: 18-29126485-G-GTGAC
gnomAD v3: 18-31546522-G-GTGAC
gnomAD v4: 18-31546522-G-GTGAC
MyVariant Identifiers: chr18:g.29126485_29126486insTGAC (hg19) chr18:g.31546522_31546523insTGAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546523_31546526dup , CM000680.2:g.31546523_31546526dup GRCh38
NC_000018.9:g.29126486_29126489dup , CM000680.1:g.29126486_29126489dup GRCh37
NC_000018.8:g.27380484_27380487dup NCBI36
NG_007072.3:g.53282_53285dup , LRG_397:g.53282_53285dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3137_3140dup (DSG2) MANE Select ENSP00000261590.8:p.Glu1048AspfsTer20
ENST00000261590.12:c.3137_3140dup (DSG2) ENSP00000261590.8:p.Glu1048AspfsTer20
NM_001943.3:c.3137_3140dup , LRG_397t1:c.3137_3140dup (DSG2) NP_001934.2:p.Glu1048AspfsTer20
NR_045216.1:n.1346-620_1346-617dup (DSG2-AS1)
NM_001943.4:c.3137_3140dup (DSG2) NP_001934.2:p.Glu1048AspfsTer20
XM_024451095.1:c.2603_2606dup (DSG2) XP_024306863.1:p.Glu870AspfsTer20
NM_001943.5:c.3137_3140dup (DSG2) MANE Select NP_001934.2:p.Glu1048AspfsTer20
Search 100 bp 5'
Search 100 bp 3'