Canonical Allele Identifier: CA2573155176

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1387457
• ClinVar RCV Id: RCV001875576
• dbSNP Id: rs2144317934

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522172_31522217dup , CM000680.2:g.31522172_31522217dup	GRCh38
NC_000018.9:g.29102135_29102180dup , CM000680.1:g.29102135_29102180dup	GRCh37
NC_000018.8:g.27356133_27356178dup	NCBI36
NG_007072.3:g.28931_28976dup , LRG_397:g.28931_28976dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.444_489dup
ENST00000682241.2:c.613_658dup	ENSP00000507600.2:p.Ile220ThrfsTer11
ENST00000683614.2:n.444_489dup
ENST00000682087.1:c.444_489dup
ENST00000682241.1:c.444_489dup
ENST00000683614.1:c.444_489dup
ENST00000683654.1:c.613_658dup	ENSP00000506971.1:p.Ile220ThrfsTer11
ENST00000684461.1:n.1283_1328dup
ENST00000261590.13:c.613_658dup MANE Select	ENSP00000261590.8:p.Ile220ThrfsTer11
ENST00000261590.12:c.613_658dup	ENSP00000261590.8:p.Ile220ThrfsTer11
ENST00000585206.1:c.613_658dup	ENSP00000462503.1:p.Ile220ThrfsTer11
NM_001943.3:c.613_658dup , LRG_397t1:c.613_658dup	NP_001934.2:p.Ile220ThrfsTer11
NM_001943.4:c.613_658dup	NP_001934.2:p.Ile220ThrfsTer11
XM_024451095.1:c.79_124dup	XP_024306863.1:p.Ile42ThrfsTer11
NM_001943.5:c.613_658dup MANE Select	NP_001934.2:p.Ile220ThrfsTer11