Canonical Allele Identifier: CA629147995

Gene: DSG2

Linked Data

• ClinVar Variation Id: 919705
• ClinVar RCV Id: RCV002559734 ; RCV003163398
• dbSNP Id: rs1332379061
• gnomAD v2: 18-29099762-A-G
• gnomAD v4: 18-31519799-A-G
• MyVariant Identifiers: chr18:g.29099762A>G (hg19) ; chr18:g.31519799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519799A>G , CM000680.2:g.31519799A>G	GRCh38
NC_000018.9:g.29099762A>G , CM000680.1:g.29099762A>G	GRCh37
NC_000018.8:g.27353760A>G	NCBI36
NG_007072.3:g.26558A>G , LRG_397:g.26558A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.82-4A>G	ENSP00000507600.2:n.82-4A>G
ENST00000683654.1:c.82-4A>G	ENSP00000506971.1:n.82-4A>G
ENST00000261590.13:c.82-4A>G MANE Select	ENSP00000261590.8:n.82-4A>G
ENST00000261590.12:c.82-4A>G	ENSP00000261590.8:n.82-4A>G
ENST00000585206.1:c.82-4A>G	ENSP00000462503.1:n.82-4A>G
NM_001943.3:c.82-4A>G , LRG_397t1:c.82-4A>G	NP_001934.2:n.82-4A>G
NM_001943.4:c.82-4A>G	NP_001934.2:n.82-4A>G
XM_024451095.1:c.-453-4A>G	XP_024306863.1:n.-453-4A>G
NM_001943.5:c.82-4A>G MANE Select	NP_001934.2:n.82-4A>G