Canonical Allele Identifier: CA050177

Gene: DSG2

Linked Data

• ClinVar Variation Id: 516896
• ClinVar RCV Id: RCV000603193 ; RCV002066780
• dbSNP Id: rs111241096
• ExAC: 18:29104646 CAT / C
• gnomAD v2: 18-29104646-CAT-C
• gnomAD v3: 18-31524683-CAT-C
• gnomAD v4: 18-31524683-CAT-C
• MyVariant Identifiers: chr18:g.29104647_29104648del (hg19) ; chr18:g.31524684_31524685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524684_31524685del , CM000680.2:g.31524684_31524685del	GRCh38
NC_000018.9:g.29104647_29104648del , CM000680.1:g.29104647_29104648del	GRCh37
NC_000018.8:g.27358645_27358646del	NCBI36
NG_007072.3:g.31443_31444del , LRG_397:g.31443_31444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.660-19_660-18del
ENST00000683614.2:n.660-19_660-18del
ENST00000682087.1:c.660-19_660-18del
ENST00000683614.1:c.660-19_660-18del
ENST00000261590.13:c.829-19_829-18del MANE Select	ENSP00000261590.8:n.829-19_829-18del
ENST00000261590.12:c.829-19_829-18del	ENSP00000261590.8:n.829-19_829-18del
NM_001943.3:c.829-19_829-18del , LRG_397t1:c.829-19_829-18del	NP_001934.2:n.829-19_829-18del
NM_001943.4:c.829-19_829-18del	NP_001934.2:n.829-19_829-18del
XM_024451095.1:c.295-19_295-18del	XP_024306863.1:n.295-19_295-18del
NM_001943.5:c.829-19_829-18del MANE Select	NP_001934.2:n.829-19_829-18del