Canonical Allele Identifier: CA047995
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420292
ClinVar RCV Id: RCV000482922 RCV001212540 RCV002323825 RCV002475933
dbSNP Id: rs758822081
ExAC: 18:29126489 CAGAA / C
gnomAD v2: 18-29126489-CAGAA-C
gnomAD v3: 18-31546526-CAGAA-C
gnomAD v4: 18-31546526-CAGAA-C
MyVariant Identifiers: chr18:g.29126493_29126496del (hg19) chr18:g.29126490_29126493del (hg19) chr18:g.31546530_31546533del (hg38) chr18:g.31546527_31546530del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546530_31546533del , CM000680.2:g.31546530_31546533del GRCh38
NC_000018.9:g.29126493_29126496del , CM000680.1:g.29126493_29126496del GRCh37
NC_000018.8:g.27380491_27380494del NCBI36
NG_007072.3:g.53289_53292del , LRG_397:g.53289_53292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3144_3147del (DSG2) MANE Select ENSP00000261590.8:p.Arg1049PhefsTer2
ENST00000261590.12:c.3144_3147del (DSG2) ENSP00000261590.8:p.Arg1049PhefsTer2
NM_001943.3:c.3144_3147del , LRG_397t1:c.3144_3147del (DSG2) NP_001934.2:p.Arg1049PhefsTer2
NR_045216.1:n.1346-624_1346-621del (DSG2-AS1)
NM_001943.4:c.3144_3147del (DSG2) NP_001934.2:p.Arg1049PhefsTer2
XM_024451095.1:c.2610_2613del (DSG2) XP_024306863.1:p.Arg871PhefsTer2
NM_001943.5:c.3144_3147del (DSG2) MANE Select NP_001934.2:p.Arg1049PhefsTer2
Search 100 bp 5'
Search 100 bp 3'