Canonical Allele Identifier: CA402147669

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 567080
• ClinVar RCV Id: RCV000687060 ; RCV001186267 ; RCV004004258
• dbSNP Id: rs1567934945
• gnomAD v3: 18-31546373-G-A
• gnomAD v4: 18-31546373-G-A
• MyVariant Identifiers: chr18:g.29126336G>A (hg19) ; chr18:g.31546373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546373G>A , CM000680.2:g.31546373G>A	GRCh38
NC_000018.9:g.29126336G>A , CM000680.1:g.29126336G>A	GRCh37
NC_000018.8:g.27380334G>A	NCBI36
NG_007072.3:g.53132G>A , LRG_397:g.53132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2987G>A (DSG2) MANE Select	ENSP00000261590.8:p.Gly996Glu
ENST00000261590.12:c.2987G>A (DSG2)	ENSP00000261590.8:p.Gly996Glu
NM_001943.3:c.2987G>A , LRG_397t1:c.2987G>A (DSG2)	NP_001934.2:p.Gly996Glu
NR_045216.1:n.1346-467C>T (DSG2-AS1)
NM_001943.4:c.2987G>A (DSG2)	NP_001934.2:p.Gly996Glu
XM_024451095.1:c.2453G>A (DSG2)	XP_024306863.1:p.Gly818Glu
NM_001943.5:c.2987G>A (DSG2) MANE Select	NP_001934.2:p.Gly996Glu