Canonical Allele Identifier: CA629148138
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1909107
ClinVar RCV Id: RCV002600091
dbSNP Id: rs1347499581

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524592A>G , CM000680.2:g.31524592A>G GRCh38
NC_000018.9:g.29104555A>G , CM000680.1:g.29104555A>G GRCh37
NC_000018.8:g.27358553A>G NCBI36
NG_007072.3:g.31351A>G , LRG_397:g.31351A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.659+7A>G
ENST00000683614.2:n.659+7A>G
ENST00000682087.1:c.659+7A>G
ENST00000683614.1:c.659+7A>G
ENST00000261590.13:c.828+7A>G MANE Select ENSP00000261590.8:n.828+7A>G
ENST00000261590.12:c.828+7A>G ENSP00000261590.8:n.828+7A>G
NM_001943.3:c.828+7A>G , LRG_397t1:c.828+7A>G NP_001934.2:n.828+7A>G
NM_001943.4:c.828+7A>G NP_001934.2:n.828+7A>G
XM_024451095.1:c.294+7A>G XP_024306863.1:n.294+7A>G
NM_001943.5:c.828+7A>G MANE Select NP_001934.2:n.828+7A>G