Canonical Allele Identifier: CA2580095688

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 2058009
• ClinVar RCV Id: RCV002915008

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546528_31546529del , CM000680.2:g.31546528_31546529del	GRCh38
NC_000018.9:g.29126491_29126492del , CM000680.1:g.29126491_29126492del	GRCh37
NC_000018.8:g.27380489_27380490del	NCBI36
NG_007072.3:g.53287_53288del , LRG_397:g.53287_53288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.3142_3143del (DSG2) MANE Select	ENSP00000261590.8:p.Glu1048LysfsTer18
ENST00000261590.12:c.3142_3143del (DSG2)	ENSP00000261590.8:p.Glu1048LysfsTer18
NM_001943.3:c.3142_3143del , LRG_397t1:c.3142_3143del (DSG2)	NP_001934.2:p.Glu1048LysfsTer18
NR_045216.1:n.1346-622_1346-621del (DSG2-AS1)
NM_001943.4:c.3142_3143del (DSG2)	NP_001934.2:p.Glu1048LysfsTer18
XM_024451095.1:c.2608_2609del (DSG2)	XP_024306863.1:p.Glu870LysfsTer18
NM_001943.5:c.3142_3143del (DSG2) MANE Select	NP_001934.2:p.Glu1048LysfsTer18