Canonical Allele Identifier: CA297702876

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs751138164
• gnomAD v2: 18-29126914-CAT-C
• gnomAD v3: 18-31546951-CAT-C
• gnomAD v4: 18-31546951-CAT-C
• MyVariant Identifiers: chr18:g.29126915_29126916del (hg19) ; chr18:g.31546952_31546953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546953_31546954del , CM000680.2:g.31546953_31546954del	GRCh38
NC_000018.9:g.29126916_29126917del , CM000680.1:g.29126916_29126917del	GRCh37
NC_000018.8:g.27380914_27380915del	NCBI36
NG_007072.3:g.53712_53713del , LRG_397:g.53712_53713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.*210_*211del (DSG2) MANE Select	ENSP00000261590.8:n.*210_*211del
ENST00000261590.12:c.*210_*211del (DSG2)	ENSP00000261590.8:n.*210_*211del
NM_001943.3:c.*210_*211del , LRG_397t1:c.*210_*211del (DSG2)	NP_001934.2:n.*210_*211del
NR_045216.1:n.1346-1047_1346-1046del (DSG2-AS1)
NM_001943.4:c.*210_*211del (DSG2)	NP_001934.2:n.*210_*211del
XM_024451095.1:c.*210_*211del (DSG2)	XP_024306863.1:n.*210_*211del
NM_001943.5:c.*210_*211del (DSG2) MANE Select	NP_001934.2:n.*210_*211del