Canonical Allele Identifier: CA2580095675

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 1786487
• ClinVar RCV Id: RCV002417864

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542655_31542656delinsAC , CM000680.2:g.31542655_31542656delinsAC	GRCh38
NC_000018.9:g.29122618_29122619delinsAC , CM000680.1:g.29122618_29122619delinsAC	GRCh37
NC_000018.8:g.27376616_27376617delinsAC	NCBI36
NG_007072.3:g.49414_49415delinsAC , LRG_397:g.49414_49415delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2137_2138delinsAC (DSG2) MANE Select	ENSP00000261590.8:p.Glu713Thr
ENST00000261590.12:c.2137_2138delinsAC (DSG2)	ENSP00000261590.8:p.Glu713Thr
NM_001943.3:c.2137_2138delinsAC , LRG_397t1:c.2137_2138delinsAC (DSG2)	NP_001934.2:p.Glu713Thr
NR_045216.1:n.1811-335_1811-334delinsGT (DSG2-AS1)
NM_001943.4:c.2137_2138delinsAC (DSG2)	NP_001934.2:p.Glu713Thr
XM_024451095.1:c.1603_1604delinsAC (DSG2)	XP_024306863.1:p.Glu535Thr
NM_001943.5:c.2137_2138delinsAC (DSG2) MANE Select	NP_001934.2:p.Glu713Thr