Canonical Allele Identifier: CA402127605
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466114
ClinVar RCV Id: RCV001990452
dbSNP Id: rs2144276572
gnomAD v4: 18-31498277-A-T
MyVariant Identifiers: chr18:g.29078240A>T (hg19) chr18:g.31498277A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498277A>T , CM000680.2:g.31498277A>T GRCh38
NC_000018.9:g.29078240A>T , CM000680.1:g.29078240A>T GRCh37
NC_000018.8:g.27332238A>T NCBI36
NG_007072.3:g.5036A>T , LRG_397:g.5036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.26A>T ENSP00000507600.2:p.Tyr9Phe
ENST00000683654.1:c.26A>T ENSP00000506971.1:p.Tyr9Phe
ENST00000261590.13:c.26A>T MANE Select ENSP00000261590.8:p.Tyr9Phe
ENST00000261590.12:c.26A>T ENSP00000261590.8:p.Tyr9Phe
ENST00000585206.1:c.26A>T ENSP00000462503.1:p.Tyr9Phe
NM_001943.3:c.26A>T , LRG_397t1:c.26A>T NP_001934.2:p.Tyr9Phe
NM_001943.4:c.26A>T NP_001934.2:p.Tyr9Phe
NM_001943.5:c.26A>T MANE Select NP_001934.2:p.Tyr9Phe
Search 100 bp 5'
Search 100 bp 3'