Canonical Allele Identifier: CA891843560
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567765
dbSNP Id: rs1567934720

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546147_31546150dup , CM000680.2:g.31546147_31546150dup GRCh38
NC_000018.9:g.29126110_29126113dup , CM000680.1:g.29126110_29126113dup GRCh37
NC_000018.8:g.27380108_27380111dup NCBI36
NG_007072.3:g.52906_52909dup , LRG_397:g.52906_52909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2761_2764dup (DSG2) MANE Select ENSP00000261590.8:p.Thr922SerfsTer6
ENST00000261590.12:c.2761_2764dup (DSG2) ENSP00000261590.8:p.Thr922SerfsTer6
NM_001943.3:c.2761_2764dup , LRG_397t1:c.2761_2764dup (DSG2) NP_001934.2:p.Thr922SerfsTer6
NR_045216.1:n.1346-242_1346-239dup (DSG2-AS1)
NM_001943.4:c.2761_2764dup (DSG2) NP_001934.2:p.Thr922SerfsTer6
XM_024451095.1:c.2227_2230dup (DSG2) XP_024306863.1:p.Thr744SerfsTer6
NM_001943.5:c.2761_2764dup (DSG2) MANE Select NP_001934.2:p.Thr922SerfsTer6