Canonical Allele Identifier: CA050440

Gene: DSG2

Linked Data

• dbSNP Id: rs748723718
• ExAC: 18:29104738 AT / A
• gnomAD v2: 18-29104738-AT-A
• gnomAD v4: 18-31524775-AT-A
• MyVariant Identifiers: chr18:g.29104739del (hg19) ; chr18:g.31524776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524776del , CM000680.2:g.31524776del	GRCh38
NC_000018.9:g.29104739del , CM000680.1:g.29104739del	GRCh37
NC_000018.8:g.27358737del	NCBI36
NG_007072.3:g.31535del , LRG_397:g.31535del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.733del
ENST00000683614.2:n.733del
ENST00000682087.1:c.733del
ENST00000683614.1:c.733del
ENST00000261590.13:c.902del MANE Select	ENSP00000261590.8:p.Ile301LysfsTer23
ENST00000261590.12:c.902del	ENSP00000261590.8:p.Ile301LysfsTer23
NM_001943.3:c.902del , LRG_397t1:c.902del	NP_001934.2:p.Ile301LysfsTer23
NM_001943.4:c.902del	NP_001934.2:p.Ile301LysfsTer23
XM_024451095.1:c.368del	XP_024306863.1:p.Ile123LysfsTer23
NM_001943.5:c.902del MANE Select	NP_001934.2:p.Ile301LysfsTer23