Canonical Allele Identifier: CA044321
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs755261077
ExAC: 18:29121205 CT / C
gnomAD v2: 18-29121205-CT-C
gnomAD v3: 18-31541242-CT-C
gnomAD v4: 18-31541242-CT-C
MyVariant Identifiers: chr18:g.29121206del (hg19) chr18:g.31541243del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541245del , CM000680.2:g.31541245del GRCh38
NC_000018.9:g.29121208del , CM000680.1:g.29121208del GRCh37
NC_000018.8:g.27375206del NCBI36
NG_007072.3:g.48004del , LRG_397:g.48004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1932del MANE Select ENSP00000261590.8:p.Phe644LeufsTer8
ENST00000261590.12:c.1932del ENSP00000261590.8:p.Phe644LeufsTer8
NM_001943.3:c.1932del , LRG_397t1:c.1932del NP_001934.2:p.Phe644LeufsTer8
NM_001943.4:c.1932del NP_001934.2:p.Phe644LeufsTer8
XM_024451095.1:c.1398del XP_024306863.1:p.Phe466LeufsTer8
NM_001943.5:c.1932del MANE Select NP_001934.2:p.Phe644LeufsTer8
Search 100 bp 5'
Search 100 bp 3'