Canonical Allele Identifier: CA10650743

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 326487
• ClinVar RCV Id: RCV000340907 ; RCV000400517
• dbSNP Id: rs368584610
• gnomAD v3: 18-31546188-A-G
• gnomAD v4: 18-31546188-A-G
• MyVariant Identifiers: chr18:g.29126151A>G (hg19) ; chr18:g.31546188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546188A>G , CM000680.2:g.31546188A>G	GRCh38
NC_000018.9:g.29126151A>G , CM000680.1:g.29126151A>G	GRCh37
NC_000018.8:g.27380149A>G	NCBI36
NG_007072.3:g.52947A>G , LRG_397:g.52947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2802A>G (DSG2) MANE Select	ENSP00000261590.8:p.Ile934Met
ENST00000261590.12:c.2802A>G (DSG2)	ENSP00000261590.8:p.Ile934Met
NM_001943.3:c.2802A>G , LRG_397t1:c.2802A>G (DSG2)	NP_001934.2:p.Ile934Met
NR_045216.1:n.1346-282T>C (DSG2-AS1)
NM_001943.4:c.2802A>G (DSG2)	NP_001934.2:p.Ile934Met
XM_024451095.1:c.2268A>G (DSG2)	XP_024306863.1:p.Ile756Met
NM_001943.5:c.2802A>G (DSG2) MANE Select	NP_001934.2:p.Ile934Met