Canonical Allele Identifier: CA402135577

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1764979
• ClinVar RCV Id: RCV002449860
• gnomAD v4: 18-31524762-C-G
• MyVariant Identifiers: chr18:g.29104725C>G (hg19) ; chr18:g.31524762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524762C>G , CM000680.2:g.31524762C>G	GRCh38
NC_000018.9:g.29104725C>G , CM000680.1:g.29104725C>G	GRCh37
NC_000018.8:g.27358723C>G	NCBI36
NG_007072.3:g.31521C>G , LRG_397:g.31521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.719C>G
ENST00000683614.2:n.719C>G
ENST00000682087.1:c.719C>G
ENST00000683614.1:c.719C>G
ENST00000261590.13:c.888C>G MANE Select	ENSP00000261590.8:p.Phe296Leu
ENST00000261590.12:c.888C>G	ENSP00000261590.8:p.Phe296Leu
NM_001943.3:c.888C>G , LRG_397t1:c.888C>G	NP_001934.2:p.Phe296Leu
NM_001943.4:c.888C>G	NP_001934.2:p.Phe296Leu
XM_024451095.1:c.354C>G	XP_024306863.1:p.Phe118Leu
NM_001943.5:c.888C>G MANE Select	NP_001934.2:p.Phe296Leu