Canonical Allele Identifier: CA988922413

Gene: DSG2

Linked Data

• dbSNP Id: rs1598799021
• gnomAD v3: 18-31498203-GGCGGCGGCGCGGAGCGGT-G
• gnomAD v4: 18-31498203-GGCGGCGGCGCGGAGCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498213_31498230del , CM000680.2:g.31498213_31498230del	GRCh38
NC_000018.9:g.29078176_29078193del , CM000680.1:g.29078176_29078193del	GRCh37
NC_000018.8:g.27332174_27332191del	NCBI36
NG_007072.3:g.4972_4989del , LRG_397:g.4972_4989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.-39_-22del MANE Select	ENSP00000261590.8:n.-39_-22del
ENST00000261590.12:c.-39_-22del	ENSP00000261590.8:n.-39_-22del
NM_001943.3:c.-39_-22del , LRG_397t1:c.-39_-22del	NP_001934.2:n.-39_-22del
NM_001943.4:c.-39_-22del	NP_001934.2:n.-39_-22del
NM_001943.5:c.-39_-22del MANE Select	NP_001934.2:n.-39_-22del