Canonical Allele Identifier: CA402139776
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1999139
ClinVar RCV Id: RCV002797052
gnomAD v4: 18-31541286-A-C
MyVariant Identifiers: chr18:g.29121249A>C (hg19) chr18:g.31541286A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541286A>C , CM000680.2:g.31541286A>C GRCh38
NC_000018.9:g.29121249A>C , CM000680.1:g.29121249A>C GRCh37
NC_000018.8:g.27375247A>C NCBI36
NG_007072.3:g.48045A>C , LRG_397:g.48045A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1973A>C MANE Select ENSP00000261590.8:p.Asn658Thr
ENST00000261590.12:c.1973A>C ENSP00000261590.8:p.Asn658Thr
NM_001943.3:c.1973A>C , LRG_397t1:c.1973A>C NP_001934.2:p.Asn658Thr
NM_001943.4:c.1973A>C NP_001934.2:p.Asn658Thr
XM_024451095.1:c.1439A>C XP_024306863.1:p.Asn480Thr
NM_001943.5:c.1973A>C MANE Select NP_001934.2:p.Asn658Thr
Search 100 bp 5'
Search 100 bp 3'