Canonical Allele Identifier: CA2641407661

Gene: DSG2 DSG2-AS1

Linked Data

• gnomAD v4: 18-31546718-G-GCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546719_31546722dup , CM000680.2:g.31546719_31546722dup	GRCh38
NC_000018.9:g.29126682_29126685dup , CM000680.1:g.29126682_29126685dup	GRCh37
NC_000018.8:g.27380680_27380683dup	NCBI36
NG_007072.3:g.53478_53481dup , LRG_397:g.53478_53481dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.3333_3336dup (DSG2) MANE Select	ENSP00000261590.8:p.Val1113HisfsTer21
ENST00000261590.12:c.3333_3336dup (DSG2)	ENSP00000261590.8:p.Val1113HisfsTer21
NM_001943.3:c.3333_3336dup , LRG_397t1:c.3333_3336dup (DSG2)	NP_001934.2:p.Val1113HisfsTer21
NR_045216.1:n.1346-816_1346-813dup (DSG2-AS1)
NM_001943.4:c.3333_3336dup (DSG2)	NP_001934.2:p.Val1113HisfsTer21
XM_024451095.1:c.2799_2802dup (DSG2)	XP_024306863.1:p.Val935HisfsTer21
NM_001943.5:c.3333_3336dup (DSG2) MANE Select	NP_001934.2:p.Val1113HisfsTer21