Canonical Allele Identifier: CA16607923
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389075
ClinVar RCV Id: RCV000425421 RCV001861614
dbSNP Id: rs180926981
gnomAD v2: 18-29104561-C-T
gnomAD v3: 18-31524598-C-T
gnomAD v4: 18-31524598-C-T
MyVariant Identifiers: chr18:g.29104561C>T (hg19) chr18:g.31524598C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524598C>T , CM000680.2:g.31524598C>T GRCh38
NC_000018.9:g.29104561C>T , CM000680.1:g.29104561C>T GRCh37
NC_000018.8:g.27358559C>T NCBI36
NG_007072.3:g.31357C>T , LRG_397:g.31357C>T

Transcript Alleles

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