Canonical Allele Identifier: CA022101
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44317
ClinVar RCV Id: RCV000037305 RCV000172528 RCV000208207 RCV000243170 RCV000770546 RCV000852471 RCV001080090
dbSNP Id: rs113451409
ExAC: 18:29101120 G / T
gnomAD v2: 18-29101120-G-T
gnomAD v3: 18-31521157-G-T
gnomAD v4: 18-31521157-G-T
MyVariant Identifiers: chr18:g.29101120G>T (hg19) chr18:g.31521157G>T (hg38)
PubMed: PMID:20400443 PMID:23861362 PMID:24070718 PMID:28600387
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521157G>T , CM000680.2:g.31521157G>T GRCh38
NC_000018.9:g.29101120G>T , CM000680.1:g.29101120G>T GRCh37
NC_000018.8:g.27355118G>T NCBI36
NG_007072.3:g.27916G>T , LRG_397:g.27916G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.268G>T
ENST00000682241.2:c.437G>T ENSP00000507600.2:p.Arg146Leu
ENST00000683614.2:n.268G>T
ENST00000682087.1:c.268G>T
ENST00000682241.1:c.268G>T
ENST00000683614.1:c.268G>T
ENST00000683654.1:c.437G>T ENSP00000506971.1:p.Arg146Leu
ENST00000684461.1:n.268G>T
ENST00000261590.13:c.437G>T MANE Select ENSP00000261590.8:p.Arg146Leu
ENST00000261590.12:c.437G>T ENSP00000261590.8:p.Arg146Leu
ENST00000585206.1:c.437G>T ENSP00000462503.1:p.Arg146Leu
NM_001943.3:c.437G>T , LRG_397t1:c.437G>T NP_001934.2:p.Arg146Leu
NM_001943.4:c.437G>T NP_001934.2:p.Arg146Leu
XM_024451095.1:c.-98G>T XP_024306863.1:n.-98G>T
NM_001943.5:c.437G>T MANE Select NP_001934.2:p.Arg146Leu
Search 100 bp 5'
Search 100 bp 3'