Canonical Allele Identifier: CA402135390
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775216
ClinVar RCV Id: RCV003533631 RCV003631331
dbSNP Id: rs2073150960
gnomAD v3: 18-31524712-A-G
gnomAD v4: 18-31524712-A-G
MyVariant Identifiers: chr18:g.29104675A>G (hg19) chr18:g.31524712A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524712A>G , CM000680.2:g.31524712A>G GRCh38
NC_000018.9:g.29104675A>G , CM000680.1:g.29104675A>G GRCh37
NC_000018.8:g.27358673A>G NCBI36
NG_007072.3:g.31471A>G , LRG_397:g.31471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.669A>G
ENST00000683614.2:n.669A>G
ENST00000682087.1:c.669A>G
ENST00000683614.1:c.669A>G
ENST00000261590.13:c.838A>G MANE Select ENSP00000261590.8:p.Met280Val
ENST00000261590.12:c.838A>G ENSP00000261590.8:p.Met280Val
NM_001943.3:c.838A>G , LRG_397t1:c.838A>G NP_001934.2:p.Met280Val
NM_001943.4:c.838A>G NP_001934.2:p.Met280Val
XM_024451095.1:c.304A>G XP_024306863.1:p.Met102Val
NM_001943.5:c.838A>G MANE Select NP_001934.2:p.Met280Val
Search 100 bp 5'
Search 100 bp 3'