Canonical Allele Identifier: CA629149329

Gene: DSG2 DSG2-AS1

Linked Data

• gnomAD v2: 18-29126806-GAC-G
• MyVariant Identifiers: chr18:g.29126807_29126808del (hg19) ; chr18:g.31546844_31546845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546847_31546848del , CM000680.2:g.31546847_31546848del	GRCh38
NC_000018.9:g.29126810_29126811del , CM000680.1:g.29126810_29126811del	GRCh37
NC_000018.8:g.27380808_27380809del	NCBI36
NG_007072.3:g.53606_53607del , LRG_397:g.53606_53607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.*104_*105del (DSG2) MANE Select	ENSP00000261590.8:n.*104_*105del
ENST00000261590.12:c.*104_*105del (DSG2)	ENSP00000261590.8:n.*104_*105del
NM_001943.3:c.*104_*105del , LRG_397t1:c.*104_*105del (DSG2)	NP_001934.2:n.*104_*105del
NR_045216.1:n.1346-939_1346-938del (DSG2-AS1)
NM_001943.4:c.*104_*105del (DSG2)	NP_001934.2:n.*104_*105del
XM_024451095.1:c.*104_*105del (DSG2)	XP_024306863.1:n.*104_*105del
NM_001943.5:c.*104_*105del (DSG2) MANE Select	NP_001934.2:n.*104_*105del