Canonical Allele Identifier: CA629453641

Gene: DSG2

Linked Data

• dbSNP Id: rs1443699010
• gnomAD v2: 18-29100972-CATA-C
• gnomAD v4: 18-31521009-CATA-C
• MyVariant Identifiers: chr18:g.29100973_29100975del (hg19) ; chr18:g.31521010_31521012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521014_31521016del , CM000680.2:g.31521014_31521016del	GRCh38
NC_000018.9:g.29100977_29100979del , CM000680.1:g.29100977_29100979del	GRCh37
NC_000018.8:g.27354975_27354977del	NCBI36
NG_007072.3:g.27773_27775del , LRG_397:g.27773_27775del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.209+50_209+52del
ENST00000682241.2:c.378+50_378+52del	ENSP00000507600.2:n.378+50_378+52del
ENST00000683614.2:n.209+50_209+52del
ENST00000682087.1:c.209+50_209+52del
ENST00000682241.1:c.209+50_209+52del
ENST00000683614.1:c.209+50_209+52del
ENST00000683654.1:c.378+50_378+52del	ENSP00000506971.1:n.378+50_378+52del
ENST00000684461.1:n.209+50_209+52del
ENST00000261590.13:c.378+50_378+52del MANE Select	ENSP00000261590.8:n.378+50_378+52del
ENST00000261590.12:c.378+50_378+52del	ENSP00000261590.8:n.378+50_378+52del
ENST00000585206.1:c.378+50_378+52del	ENSP00000462503.1:n.378+50_378+52del
NM_001943.3:c.378+50_378+52del , LRG_397t1:c.378+50_378+52del	NP_001934.2:n.378+50_378+52del
NM_001943.4:c.378+50_378+52del	NP_001934.2:n.378+50_378+52del
XM_024451095.1:c.-157+50_-157+52del	XP_024306863.1:n.-157+50_-157+52del
NM_001943.5:c.378+50_378+52del MANE Select	NP_001934.2:n.378+50_378+52del