Canonical Allele Identifier: CA402147614
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798327
ClinVar RCV Id: RCV002442141
dbSNP Id: rs1339663988
gnomAD v3: 18-31546361-T-C
gnomAD v4: 18-31546361-T-C
MyVariant Identifiers: chr18:g.29126324T>C (hg19) chr18:g.31546361T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546361T>C , CM000680.2:g.31546361T>C GRCh38
NC_000018.9:g.29126324T>C , CM000680.1:g.29126324T>C GRCh37
NC_000018.8:g.27380322T>C NCBI36
NG_007072.3:g.53120T>C , LRG_397:g.53120T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2975T>C (DSG2) MANE Select ENSP00000261590.8:p.Ile992Thr
ENST00000261590.12:c.2975T>C (DSG2) ENSP00000261590.8:p.Ile992Thr
NM_001943.3:c.2975T>C , LRG_397t1:c.2975T>C (DSG2) NP_001934.2:p.Ile992Thr
NR_045216.1:n.1346-455A>G (DSG2-AS1)
NM_001943.4:c.2975T>C (DSG2) NP_001934.2:p.Ile992Thr
XM_024451095.1:c.2441T>C (DSG2) XP_024306863.1:p.Ile814Thr
NM_001943.5:c.2975T>C (DSG2) MANE Select NP_001934.2:p.Ile992Thr
Search 100 bp 5'
Search 100 bp 3'