Canonical Allele Identifier: CA503600672
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1555433
ClinVar RCV Id: RCV002192965
dbSNP Id: rs2144341392
gnomAD v4: 18-31536230-A-G
MyVariant Identifiers: chr18:g.29116193A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536230A>G , CM000680.2:g.31536230A>G GRCh38
NC_000018.9:g.29116193A>G , CM000680.1:g.29116193A>G GRCh37
NC_000018.8:g.27370191A>G NCBI36
NG_007072.3:g.42989A>G , LRG_397:g.42989A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1452A>G MANE Select ENSP00000261590.8:p.Thr484=
ENST00000261590.12:c.1452A>G ENSP00000261590.8:p.Thr484=
NM_001943.3:c.1452A>G , LRG_397t1:c.1452A>G NP_001934.2:p.Thr484=
NM_001943.4:c.1452A>G NP_001934.2:p.Thr484=
XM_024451095.1:c.918A>G XP_024306863.1:p.Thr306=
NM_001943.5:c.1452A>G MANE Select NP_001934.2:p.Thr484=
Search 100 bp 5'
Search 100 bp 3'