Canonical Allele Identifier: CA503766359
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775243
ClinVar RCV Id: RCV003533658
MyVariant Identifiers: chr18:g.29126196C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546233C>T , CM000680.2:g.31546233C>T GRCh38
NC_000018.9:g.29126196C>T , CM000680.1:g.29126196C>T GRCh37
NC_000018.8:g.27380194C>T NCBI36
NG_007072.3:g.52992C>T , LRG_397:g.52992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2847C>T (DSG2) MANE Select ENSP00000261590.8:p.Thr949=
ENST00000261590.12:c.2847C>T (DSG2) ENSP00000261590.8:p.Thr949=
NM_001943.3:c.2847C>T , LRG_397t1:c.2847C>T (DSG2) NP_001934.2:p.Thr949=
NR_045216.1:n.1346-327G>A (DSG2-AS1)
NM_001943.4:c.2847C>T (DSG2) NP_001934.2:p.Thr949=
XM_024451095.1:c.2313C>T (DSG2) XP_024306863.1:p.Thr771=
NM_001943.5:c.2847C>T (DSG2) MANE Select NP_001934.2:p.Thr949=
Search 100 bp 5'
Search 100 bp 3'