Canonical Allele Identifier: CA919958573

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 1701778
• ClinVar RCV Id: RCV002275682 ; RCV003096228
• dbSNP Id: rs1252426323
• gnomAD v4: 18-31546371-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546376del , CM000680.2:g.31546376del	GRCh38
NC_000018.9:g.29126339del , CM000680.1:g.29126339del	GRCh37
NC_000018.8:g.27380337del	NCBI36
NG_007072.3:g.53135del , LRG_397:g.53135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2990del (DSG2) MANE Select	ENSP00000261590.8:p.Gly997ValfsTer20
ENST00000261590.12:c.2990del (DSG2)	ENSP00000261590.8:p.Gly997ValfsTer20
NM_001943.3:c.2990del , LRG_397t1:c.2990del (DSG2)	NP_001934.2:p.Gly997ValfsTer20
NR_045216.1:n.1346-466del (DSG2-AS1)
NM_001943.4:c.2990del (DSG2)	NP_001934.2:p.Gly997ValfsTer20
XM_024451095.1:c.2456del (DSG2)	XP_024306863.1:p.Gly819ValfsTer20
NM_001943.5:c.2990del (DSG2) MANE Select	NP_001934.2:p.Gly997ValfsTer20