Canonical Allele Identifier: CA021856
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199826
ClinVar RCV Id: RCV000181244 RCV000459513
dbSNP Id: rs794728095
ExAC: 18:29125994 ACTC / A
gnomAD v2: 18-29125994-ACTC-A
gnomAD v3: 18-31546031-ACTC-A
gnomAD v4: 18-31546031-ACTC-A
MyVariant Identifiers: chr18:g.29125998_29126000del (hg19) chr18:g.29125995_29125997del (hg19) chr18:g.31546035_31546037del (hg38) chr18:g.31546032_31546034del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546035_31546037del , CM000680.2:g.31546035_31546037del GRCh38
NC_000018.9:g.29125998_29126000del , CM000680.1:g.29125998_29126000del GRCh37
NC_000018.8:g.27379996_27379998del NCBI36
NG_007072.3:g.52794_52796del , LRG_397:g.52794_52796del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2649_2651del (DSG2) MANE Select ENSP00000261590.8:p.Ser884del
ENST00000261590.12:c.2649_2651del (DSG2) ENSP00000261590.8:p.Ser884del
NM_001943.3:c.2649_2651del , LRG_397t1:c.2649_2651del (DSG2) NP_001934.2:p.Ser884del
NR_045216.1:n.1346-128_1346-126del (DSG2-AS1)
NM_001943.4:c.2649_2651del (DSG2) NP_001934.2:p.Ser884del
XM_024451095.1:c.2115_2117del (DSG2) XP_024306863.1:p.Ser706del
NM_001943.5:c.2649_2651del (DSG2) MANE Select NP_001934.2:p.Ser884del
Search 100 bp 5'
Search 100 bp 3'