Canonical Allele Identifier: CA2641412743

Gene: DSG2

Linked Data

• gnomAD v4: 18-31521248-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521249del , CM000680.2:g.31521249del	GRCh38
NC_000018.9:g.29101212del , CM000680.1:g.29101212del	GRCh37
NC_000018.8:g.27355210del	NCBI36
NG_007072.3:g.28008del , LRG_397:g.28008del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.354+6del
ENST00000682241.2:c.523+6del	ENSP00000507600.2:n.523+6del
ENST00000683614.2:n.354+6del
ENST00000682087.1:c.354+6del
ENST00000682241.1:c.354+6del
ENST00000683614.1:c.354+6del
ENST00000683654.1:c.523+6del	ENSP00000506971.1:n.523+6del
ENST00000684461.1:n.360del
ENST00000261590.13:c.523+6del MANE Select	ENSP00000261590.8:n.523+6del
ENST00000261590.12:c.523+6del	ENSP00000261590.8:n.523+6del
ENST00000585206.1:c.523+6del	ENSP00000462503.1:n.523+6del
NM_001943.3:c.523+6del , LRG_397t1:c.523+6del	NP_001934.2:n.523+6del
NM_001943.4:c.523+6del	NP_001934.2:n.523+6del
XM_024451095.1:c.-12+6del	XP_024306863.1:n.-12+6del
NM_001943.5:c.523+6del MANE Select	NP_001934.2:n.523+6del