Canonical Allele Identifier: CA022332
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199802
ClinVar RCV Id: RCV000181210 RCV000465847
dbSNP Id: rs185821167
gnomAD v2: 18-29104712-G-T
gnomAD v3: 18-31524749-G-T
gnomAD v4: 18-31524749-G-T
MyVariant Identifiers: chr18:g.29104712G>T (hg19) chr18:g.31524749G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524749G>T , CM000680.2:g.31524749G>T GRCh38
NC_000018.9:g.29104712G>T , CM000680.1:g.29104712G>T GRCh37
NC_000018.8:g.27358710G>T NCBI36
NG_007072.3:g.31508G>T , LRG_397:g.31508G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.706G>T
ENST00000683614.2:n.706G>T
ENST00000682087.1:c.706G>T
ENST00000683614.1:c.706G>T
ENST00000261590.13:c.875G>T MANE Select ENSP00000261590.8:p.Arg292Leu
ENST00000261590.12:c.875G>T ENSP00000261590.8:p.Arg292Leu
NM_001943.3:c.875G>T , LRG_397t1:c.875G>T NP_001934.2:p.Arg292Leu
NM_001943.4:c.875G>T NP_001934.2:p.Arg292Leu
XM_024451095.1:c.341G>T XP_024306863.1:p.Arg114Leu
NM_001943.5:c.875G>T MANE Select NP_001934.2:p.Arg292Leu
Search 100 bp 5'
Search 100 bp 3'