Canonical Allele Identifier: CA629149323
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
ClinVar RCV:
RCV004009796
ClinVar Variation:
3069764
dbSNP:
1203247330
gnomAD v2:
18:29126688 A / ACAG
gnomAD v4:
chr18-31546725-A-ACAG
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
MyVariant.info:
GRCh38 chr18:g.31546725_31546726insCAG
GRCh37 chr18:g.29126688_29126689insCAG
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546728_31546730dup , CM000680.2:g.31546728_31546730dup GRCh38
NC_000018.9:g.29126691_29126693dup , CM000680.1:g.29126691_29126693dup GRCh37
NC_000018.8:g.27380689_27380691dup NCBI36
NG_007072.3:g.53487_53489dup , LRG_397:g.53487_53489dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3342_3344dup (DSG2) MANE Select ENSP00000261590.8:p.Gln1114_His1115insGln
ENST00000261590.12:c.3342_3344dup (DSG2) ENSP00000261590.8:p.Gln1114_His1115insGln
NM_001943.3:c.3342_3344dup , LRG_397t1:c.3342_3344dup (DSG2) NP_001934.2:p.Gln1114_His1115insGln
NR_045216.1:n.1346-822_1346-820dup (DSG2-AS1)
NM_001943.4:c.3342_3344dup (DSG2) NP_001934.2:p.Gln1114_His1115insGln
XM_024451095.1:c.2808_2810dup (DSG2) XP_024306863.1:p.Gln936_His937insGln
NM_001943.5:c.3342_3344dup (DSG2) MANE Select NP_001934.2:p.Gln1114_His1115insGln
Search 100 bp 5'
Search 100 bp 3'