Canonical Allele Identifier: CA2641412565

Gene: DSG2

Linked Data

• ClinVar Variation Id: 3075035
• ClinVar RCV Id: RCV004015561
• gnomAD v4: 18-31519788-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519790dup , CM000680.2:g.31519790dup	GRCh38
NC_000018.9:g.29099753dup , CM000680.1:g.29099753dup	GRCh37
NC_000018.8:g.27353751dup	NCBI36
NG_007072.3:g.26549dup , LRG_397:g.26549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.82-13dup	ENSP00000507600.2:n.82-13dup
ENST00000683654.1:c.82-13dup	ENSP00000506971.1:n.82-13dup
ENST00000261590.13:c.82-13dup MANE Select	ENSP00000261590.8:n.82-13dup
ENST00000261590.12:c.82-13dup	ENSP00000261590.8:n.82-13dup
ENST00000585206.1:c.82-13dup	ENSP00000462503.1:n.82-13dup
NM_001943.3:c.82-13dup , LRG_397t1:c.82-13dup	NP_001934.2:n.82-13dup
NM_001943.4:c.82-13dup	NP_001934.2:n.82-13dup
XM_024451095.1:c.-453-13dup	XP_024306863.1:n.-453-13dup
NM_001943.5:c.82-13dup MANE Select	NP_001934.2:n.82-13dup