Canonical Allele Identifier: CA044768

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 2052727
• ClinVar RCV Id: RCV002937666 ; RCV003533314 ; RCV004007692
• dbSNP Id: rs780303998
• ExAC: 18:29122544 G / A
• gnomAD v2: 18-29122544-G-A
• gnomAD v4: 18-31542581-G-A
• MyVariant Identifiers: chr18:g.29122544G>A (hg19) ; chr18:g.31542581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542581G>A , CM000680.2:g.31542581G>A	GRCh38
NC_000018.9:g.29122544G>A , CM000680.1:g.29122544G>A	GRCh37
NC_000018.8:g.27376542G>A	NCBI36
NG_007072.3:g.49340G>A , LRG_397:g.49340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2063G>A (DSG2) MANE Select	ENSP00000261590.8:p.Gly688Glu
ENST00000261590.12:c.2063G>A (DSG2)	ENSP00000261590.8:p.Gly688Glu
NM_001943.3:c.2063G>A , LRG_397t1:c.2063G>A (DSG2)	NP_001934.2:p.Gly688Glu
NR_045216.1:n.1811-260C>T (DSG2-AS1)
NM_001943.4:c.2063G>A (DSG2)	NP_001934.2:p.Gly688Glu
XM_024451095.1:c.1529G>A (DSG2)	XP_024306863.1:p.Gly510Glu
NM_001943.5:c.2063G>A (DSG2) MANE Select	NP_001934.2:p.Gly688Glu