Canonical Allele Identifier: CA629453718

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs1567935305
• gnomAD v2: 18-29126655-ATCTT-A
• gnomAD v4: 18-31546692-ATCTT-A
• MyVariant Identifiers: chr18:g.29126656_29126659del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546693_31546696del , CM000680.2:g.31546693_31546696del	GRCh38
NC_000018.9:g.29126656_29126659del , CM000680.1:g.29126656_29126659del	GRCh37
NC_000018.8:g.27380654_27380657del	NCBI36
NG_007072.3:g.53452_53455del , LRG_397:g.53452_53455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.3307_3310del (DSG2) MANE Select	ENSP00000261590.8:p.Ser1103ProfsTer23
ENST00000261590.12:c.3307_3310del (DSG2)	ENSP00000261590.8:p.Ser1103ProfsTer23
NM_001943.3:c.3307_3310del , LRG_397t1:c.3307_3310del (DSG2)	NP_001934.2:p.Ser1103ProfsTer23
NR_045216.1:n.1346-790_1346-787del (DSG2-AS1)
NM_001943.4:c.3307_3310del (DSG2)	NP_001934.2:p.Ser1103ProfsTer23
XM_024451095.1:c.2773_2776del (DSG2)	XP_024306863.1:p.Ser925ProfsTer23
NM_001943.5:c.3307_3310del (DSG2) MANE Select	NP_001934.2:p.Ser1103ProfsTer23