Canonical Allele Identifier: CA2695227366
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546564del , CM000680.2:g.31546564del GRCh38
NC_000018.9:g.29126527del , CM000680.1:g.29126527del GRCh37
NC_000018.8:g.27380525del NCBI36
NG_007072.3:g.53323del , LRG_397:g.53323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3178del (DSG2) MANE Select ENSP00000261590.8:p.Ser1060ValfsTer10
ENST00000261590.12:c.3178del (DSG2) ENSP00000261590.8:p.Ser1060ValfsTer10
NM_001943.3:c.3178del , LRG_397t1:c.3178del (DSG2) NP_001934.2:p.Ser1060ValfsTer10
NR_045216.1:n.1346-658del (DSG2-AS1)
NM_001943.4:c.3178del (DSG2) NP_001934.2:p.Ser1060ValfsTer10
XM_024451095.1:c.2644del (DSG2) XP_024306863.1:p.Ser882ValfsTer10
NM_001943.5:c.3178del (DSG2) MANE Select NP_001934.2:p.Ser1060ValfsTer10