Canonical Allele Identifier: CA2576480510

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2102204
• ClinVar RCV Id: RCV003019406

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524601C>G , CM000680.2:g.31524601C>G	GRCh38
NC_000018.9:g.29104564C>G , CM000680.1:g.29104564C>G	GRCh37
NC_000018.8:g.27358562C>G	NCBI36
NG_007072.3:g.31360C>G , LRG_397:g.31360C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.659+16C>G
ENST00000683614.2:n.659+16C>G
ENST00000682087.1:c.659+16C>G
ENST00000683614.1:c.659+16C>G
ENST00000261590.13:c.828+16C>G MANE Select	ENSP00000261590.8:n.828+16C>G
ENST00000261590.12:c.828+16C>G	ENSP00000261590.8:n.828+16C>G
NM_001943.3:c.828+16C>G , LRG_397t1:c.828+16C>G	NP_001934.2:n.828+16C>G
NM_001943.4:c.828+16C>G	NP_001934.2:n.828+16C>G
XM_024451095.1:c.294+16C>G	XP_024306863.1:n.294+16C>G
NM_001943.5:c.828+16C>G MANE Select	NP_001934.2:n.828+16C>G