Canonical Allele Identifier: CA2580095584
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2030058
ClinVar RCV Id: RCV002848303
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541334A>C , CM000680.2:g.31541334A>C GRCh38
NC_000018.9:g.29121297A>C , CM000680.1:g.29121297A>C GRCh37
NC_000018.8:g.27375295A>C NCBI36
NG_007072.3:g.48093A>C , LRG_397:g.48093A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2001+20A>C MANE Select ENSP00000261590.8:n.2001+20A>C
ENST00000261590.12:c.2001+20A>C ENSP00000261590.8:n.2001+20A>C
NM_001943.3:c.2001+20A>C , LRG_397t1:c.2001+20A>C NP_001934.2:n.2001+20A>C
NM_001943.4:c.2001+20A>C NP_001934.2:n.2001+20A>C
XM_024451095.1:c.1467+20A>C XP_024306863.1:n.1467+20A>C
NM_001943.5:c.2001+20A>C MANE Select NP_001934.2:n.2001+20A>C
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