Canonical Allele Identifier: CA2739268636
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2891861
ClinVar RCV Id: RCV003632538

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542854dup , CM000680.2:g.31542854dup GRCh38
NC_000018.9:g.29122817dup , CM000680.1:g.29122817dup GRCh37
NC_000018.8:g.27376815dup NCBI36
NG_007072.3:g.49613dup , LRG_397:g.49613dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2334+2dup (DSG2) MANE Select ENSP00000261590.8:n.2334+2dup
ENST00000261590.12:c.2334+2dup (DSG2) ENSP00000261590.8:n.2334+2dup
NM_001943.3:c.2334+2dup , LRG_397t1:c.2334+2dup (DSG2) NP_001934.2:n.2334+2dup
NR_045216.1:n.1810+248dup (DSG2-AS1)
NM_001943.4:c.2334+2dup (DSG2) NP_001934.2:n.2334+2dup
XM_024451095.1:c.1800+2dup (DSG2) XP_024306863.1:n.1800+2dup
NM_001943.5:c.2334+2dup (DSG2) MANE Select NP_001934.2:n.2334+2dup