Canonical Allele Identifier: CA2580095680
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2026531
ClinVar RCV Id: RCV002871407

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524685dup , CM000680.2:g.31524685dup GRCh38
NC_000018.9:g.29104648dup , CM000680.1:g.29104648dup GRCh37
NC_000018.8:g.27358646dup NCBI36
NG_007072.3:g.31444dup , LRG_397:g.31444dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.660-18dup
ENST00000683614.2:n.660-18dup
ENST00000682087.1:c.660-18dup
ENST00000683614.1:c.660-18dup
ENST00000261590.13:c.829-18dup MANE Select ENSP00000261590.8:n.829-18dup
ENST00000261590.12:c.829-18dup ENSP00000261590.8:n.829-18dup
NM_001943.3:c.829-18dup , LRG_397t1:c.829-18dup NP_001934.2:n.829-18dup
NM_001943.4:c.829-18dup NP_001934.2:n.829-18dup
XM_024451095.1:c.295-18dup XP_024306863.1:n.295-18dup
NM_001943.5:c.829-18dup MANE Select NP_001934.2:n.829-18dup