Canonical Allele Identifier: CA2641412902

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2775210
• ClinVar RCV Id: RCV003533625
• gnomAD v4: 18-31522152-ATAGAATCGTATCTCTGGAGCCTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522154_31522177del , CM000680.2:g.31522154_31522177del	GRCh38
NC_000018.9:g.29102117_29102140del , CM000680.1:g.29102117_29102140del	GRCh37
NC_000018.8:g.27356115_27356138del	NCBI36
NG_007072.3:g.28913_28936del , LRG_397:g.28913_28936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.426_449del
ENST00000682241.2:c.595_618del	ENSP00000507600.2:p.Arg199_Ala206del
ENST00000683614.2:n.426_449del
ENST00000682087.1:c.426_449del
ENST00000682241.1:c.426_449del
ENST00000683614.1:c.426_449del
ENST00000683654.1:c.595_618del	ENSP00000506971.1:p.Arg199_Ala206del
ENST00000684461.1:n.1265_1288del
ENST00000261590.13:c.595_618del MANE Select	ENSP00000261590.8:p.Arg199_Ala206del
ENST00000261590.12:c.595_618del	ENSP00000261590.8:p.Arg199_Ala206del
ENST00000585206.1:c.595_618del	ENSP00000462503.1:p.Arg199_Ala206del
NM_001943.3:c.595_618del , LRG_397t1:c.595_618del	NP_001934.2:p.Arg199_Ala206del
NM_001943.4:c.595_618del	NP_001934.2:p.Arg199_Ala206del
XM_024451095.1:c.61_84del	XP_024306863.1:p.Arg21_Ala28del
NM_001943.5:c.595_618del MANE Select	NP_001934.2:p.Arg199_Ala206del