Canonical Allele Identifier: CA629453714
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1204755
ClinVar RCV Id: RCV001571198 RCV002324149 RCV003631208 RCV004008940
dbSNP Id: rs1319078257
gnomAD v2: 18-29126490-A-AGAAAGAGTTCTAGCACCT
gnomAD v4: 18-31546527-A-AGAAAGAGTTCTAGCACCT
MyVariant Identifiers: chr18:g.29126490_29126491insGAAAGAGTTCTAGCACCT (hg19) chr18:g.31546527_31546528insGAAAGAGTTCTAGCACCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546529_31546546dup , CM000680.2:g.31546529_31546546dup GRCh38
NC_000018.9:g.29126492_29126509dup , CM000680.1:g.29126492_29126509dup GRCh37
NC_000018.8:g.27380490_27380507dup NCBI36
NG_007072.3:g.53288_53305dup , LRG_397:g.53288_53305dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3143_3160dup (DSG2) MANE Select ENSP00000261590.8:p.Pro1053_Ala1054insGluArgValLeuAlaPro
ENST00000261590.12:c.3143_3160dup (DSG2) ENSP00000261590.8:p.Pro1053_Ala1054insGluArgValLeuAlaPro
NM_001943.3:c.3143_3160dup , LRG_397t1:c.3143_3160dup (DSG2) NP_001934.2:p.Pro1053_Ala1054insGluArgValLeuAlaPro
NR_045216.1:n.1346-639_1346-622dup (DSG2-AS1)
NM_001943.4:c.3143_3160dup (DSG2) NP_001934.2:p.Pro1053_Ala1054insGluArgValLeuAlaPro
XM_024451095.1:c.2609_2626dup (DSG2) XP_024306863.1:p.Pro875_Ala876insGluArgValLeuAlaPro
NM_001943.5:c.3143_3160dup (DSG2) MANE Select NP_001934.2:p.Pro1053_Ala1054insGluArgValLeuAlaPro
Search 100 bp 5'
Search 100 bp 3'