Canonical Allele Identifier: CA629148057

Gene: DSG2

Linked Data

• dbSNP Id: rs1336989636
• gnomAD v2: 18-29102111-TC-T
• MyVariant Identifiers: chr18:g.29102112del (hg19) ; chr18:g.31522149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522150del , CM000680.2:g.31522150del	GRCh38
NC_000018.9:g.29102113del , CM000680.1:g.29102113del	GRCh37
NC_000018.8:g.27356111del	NCBI36
NG_007072.3:g.28909del , LRG_397:g.28909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.422del
ENST00000682241.2:c.591del	ENSP00000507600.2:p.Tyr198IlefsTer16
ENST00000683614.2:n.422del
ENST00000682087.1:c.422del
ENST00000682241.1:c.422del
ENST00000683614.1:c.422del
ENST00000683654.1:c.591del	ENSP00000506971.1:p.Tyr198IlefsTer16
ENST00000684461.1:n.1261del
ENST00000261590.13:c.591del MANE Select	ENSP00000261590.8:p.Tyr198IlefsTer16
ENST00000261590.12:c.591del	ENSP00000261590.8:p.Tyr198IlefsTer16
ENST00000585206.1:c.591del	ENSP00000462503.1:p.Tyr198IlefsTer16
NM_001943.3:c.591del , LRG_397t1:c.591del	NP_001934.2:p.Tyr198IlefsTer16
NM_001943.4:c.591del	NP_001934.2:p.Tyr198IlefsTer16
XM_024451095.1:c.57del	XP_024306863.1:p.Tyr20IlefsTer16
NM_001943.5:c.591del MANE Select	NP_001934.2:p.Tyr198IlefsTer16