Canonical Allele Identifier: CA402133501

Gene: DSG2

Linked Data

• dbSNP Id: rs2073131659
• gnomAD v4: 18-31522133-C-G
• MyVariant Identifiers: chr18:g.29102096C>G (hg19) ; chr18:g.31522133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522133C>G , CM000680.2:g.31522133C>G	GRCh38
NC_000018.9:g.29102096C>G , CM000680.1:g.29102096C>G	GRCh37
NC_000018.8:g.27356094C>G	NCBI36
NG_007072.3:g.28892C>G , LRG_397:g.28892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.405C>G
ENST00000682241.2:c.574C>G	ENSP00000507600.2:p.Leu192Val
ENST00000683614.2:n.405C>G
ENST00000682087.1:c.405C>G
ENST00000682241.1:c.405C>G
ENST00000683614.1:c.405C>G
ENST00000683654.1:c.574C>G	ENSP00000506971.1:p.Leu192Val
ENST00000684461.1:n.1244C>G
ENST00000261590.13:c.574C>G MANE Select	ENSP00000261590.8:p.Leu192Val
ENST00000261590.12:c.574C>G	ENSP00000261590.8:p.Leu192Val
ENST00000585206.1:c.574C>G	ENSP00000462503.1:p.Leu192Val
NM_001943.3:c.574C>G , LRG_397t1:c.574C>G	NP_001934.2:p.Leu192Val
NM_001943.4:c.574C>G	NP_001934.2:p.Leu192Val
XM_024451095.1:c.40C>G	XP_024306863.1:p.Leu14Val
NM_001943.5:c.574C>G MANE Select	NP_001934.2:p.Leu192Val