Canonical Allele Identifier: CA021938
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199801
dbSNP Id: rs794728084

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546309del , CM000680.2:g.31546309del GRCh38
NC_000018.9:g.29126272del , CM000680.1:g.29126272del GRCh37
NC_000018.8:g.27380270del NCBI36
NG_007072.3:g.53068del , LRG_397:g.53068del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2923del (DSG2) MANE Select ENSP00000261590.8:p.Val975Ter
ENST00000261590.12:c.2923del (DSG2) ENSP00000261590.8:p.Val975Ter
NM_001943.3:c.2923del , LRG_397t1:c.2923del (DSG2) NP_001934.2:p.Val975Ter
NR_045216.1:n.1346-402del (DSG2-AS1)
NM_001943.4:c.2923del (DSG2) NP_001934.2:p.Val975Ter
XM_024451095.1:c.2389del (DSG2) XP_024306863.1:p.Val797Ter
NM_001943.5:c.2923del (DSG2) MANE Select NP_001934.2:p.Val975Ter