Canonical Allele Identifier: CA629148142

Gene: DSG2

Linked Data

• dbSNP Id: rs2073150251
• gnomAD v2: 18-29104577-CTATT-C
• gnomAD v4: 18-31524614-CTATT-C
• MyVariant Identifiers: chr18:g.29104578_29104581del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524622_31524625del , CM000680.2:g.31524622_31524625del	GRCh38
NC_000018.9:g.29104585_29104588del , CM000680.1:g.29104585_29104588del	GRCh37
NC_000018.8:g.27358583_27358586del	NCBI36
NG_007072.3:g.31381_31384del , LRG_397:g.31381_31384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.659+37_659+40del
ENST00000683614.2:n.659+37_659+40del
ENST00000682087.1:c.659+37_659+40del
ENST00000683614.1:c.659+37_659+40del
ENST00000261590.13:c.828+37_828+40del MANE Select	ENSP00000261590.8:n.828+37_828+40del
ENST00000261590.12:c.828+37_828+40del	ENSP00000261590.8:n.828+37_828+40del
NM_001943.3:c.828+37_828+40del , LRG_397t1:c.828+37_828+40del	NP_001934.2:n.828+37_828+40del
NM_001943.4:c.828+37_828+40del	NP_001934.2:n.828+37_828+40del
XM_024451095.1:c.294+37_294+40del	XP_024306863.1:n.294+37_294+40del
NM_001943.5:c.828+37_828+40del MANE Select	NP_001934.2:n.828+37_828+40del