Canonical Allele Identifier: CA629148137

Gene: DSG2

Linked Data

• dbSNP Id: rs1568106660
• gnomAD v2: 18-29104553-CTAT-C
• gnomAD v4: 18-31524590-CTAT-C
• MyVariant Identifiers: chr18:g.29104554_29104556del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524595_31524597del , CM000680.2:g.31524595_31524597del	GRCh38
NC_000018.9:g.29104558_29104560del , CM000680.1:g.29104558_29104560del	GRCh37
NC_000018.8:g.27358556_27358558del	NCBI36
NG_007072.3:g.31354_31356del , LRG_397:g.31354_31356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.659+10_659+12del
ENST00000683614.2:n.659+10_659+12del
ENST00000682087.1:c.659+10_659+12del
ENST00000683614.1:c.659+10_659+12del
ENST00000261590.13:c.828+10_828+12del MANE Select	ENSP00000261590.8:n.828+10_828+12del
ENST00000261590.12:c.828+10_828+12del	ENSP00000261590.8:n.828+10_828+12del
NM_001943.3:c.828+10_828+12del , LRG_397t1:c.828+10_828+12del	NP_001934.2:n.828+10_828+12del
NM_001943.4:c.828+10_828+12del	NP_001934.2:n.828+10_828+12del
XM_024451095.1:c.294+10_294+12del	XP_024306863.1:n.294+10_294+12del
NM_001943.5:c.828+10_828+12del MANE Select	NP_001934.2:n.828+10_828+12del