Canonical Allele Identifier: CA913188918

Gene: DSG2

Linked Data

• ClinVar Variation Id: 926381
• ClinVar RCV Id: RCV001188973
• dbSNP Id: rs2073126642
• gnomAD v4: 18-31521244-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521245dup , CM000680.2:g.31521245dup	GRCh38
NC_000018.9:g.29101208dup , CM000680.1:g.29101208dup	GRCh37
NC_000018.8:g.27355206dup	NCBI36
NG_007072.3:g.28004dup , LRG_397:g.28004dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.354+2dup
ENST00000682241.2:c.523+2dup	ENSP00000507600.2:n.523+2dup
ENST00000683614.2:n.354+2dup
ENST00000682087.1:c.354+2dup
ENST00000682241.1:c.354+2dup
ENST00000683614.1:c.354+2dup
ENST00000683654.1:c.523+2dup	ENSP00000506971.1:n.523+2dup
ENST00000684461.1:n.356dup
ENST00000261590.13:c.523+2dup MANE Select	ENSP00000261590.8:n.523+2dup
ENST00000261590.12:c.523+2dup	ENSP00000261590.8:n.523+2dup
ENST00000585206.1:c.523+2dup	ENSP00000462503.1:n.523+2dup
NM_001943.3:c.523+2dup , LRG_397t1:c.523+2dup	NP_001934.2:n.523+2dup
NM_001943.4:c.523+2dup	NP_001934.2:n.523+2dup
XM_024451095.1:c.-12+2dup	XP_024306863.1:n.-12+2dup
NM_001943.5:c.523+2dup MANE Select	NP_001934.2:n.523+2dup