Canonical Allele Identifier: CA021962
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199827
ClinVar RCV Id: RCV000208503 RCV000242452 RCV000496000 RCV000560883 RCV000852476
dbSNP Id: rs397516706
ExAC: 18:29126403 AAGAG / A
gnomAD v2: 18-29126403-AAGAG-A
gnomAD v3: 18-31546440-AAGAG-A
gnomAD v4: 18-31546440-AAGAG-A
MyVariant Identifiers: chr18:g.29126408_29126411del (hg19) chr18:g.29126404_29126407del (hg19) chr18:g.31546445_31546448del (hg38) chr18:g.31546441_31546444del (hg38)
PubMed: PMID:20864495 PMID:21397041 PMID:23381804 PMID:23651034
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546445_31546448del , CM000680.2:g.31546445_31546448del GRCh38
NC_000018.9:g.29126408_29126411del , CM000680.1:g.29126408_29126411del GRCh37
NC_000018.8:g.27380406_27380409del NCBI36
NG_007072.3:g.53204_53207del , LRG_397:g.53204_53207del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3059_3062del (DSG2) MANE Select ENSP00000261590.8:p.Glu1020AlafsTer18
ENST00000261590.12:c.3059_3062del (DSG2) ENSP00000261590.8:p.Glu1020AlafsTer18
NM_001943.3:c.3059_3062del , LRG_397t1:c.3059_3062del (DSG2) NP_001934.2:p.Glu1020AlafsTer18
NR_045216.1:n.1346-538_1346-535del (DSG2-AS1)
NM_001943.4:c.3059_3062del (DSG2) NP_001934.2:p.Glu1020AlafsTer18
XM_024451095.1:c.2525_2528del (DSG2) XP_024306863.1:p.Glu842AlafsTer18
NM_001943.5:c.3059_3062del (DSG2) MANE Select NP_001934.2:p.Glu1020AlafsTer18
Search 100 bp 5'
Search 100 bp 3'