Canonical Allele Identifier: CA503595789
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466342
ClinVar RCV Id: RCV000538595
dbSNP Id: rs1555669691
gnomAD v4: 18-31498293-C-T
MyVariant Identifiers: chr18:g.29078256C>T (hg19) chr18:g.31498293C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498293C>T , CM000680.2:g.31498293C>T GRCh38
NC_000018.9:g.29078256C>T , CM000680.1:g.29078256C>T GRCh37
NC_000018.8:g.27332254C>T NCBI36
NG_007072.3:g.5052C>T , LRG_397:g.5052C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682241.2:c.42C>T ENSP00000507600.2:p.Leu14=
ENST00000683654.1:c.42C>T ENSP00000506971.1:p.Leu14=
ENST00000261590.13:c.42C>T MANE Select ENSP00000261590.8:p.Leu14=
ENST00000261590.12:c.42C>T ENSP00000261590.8:p.Leu14=
ENST00000585206.1:c.42C>T ENSP00000462503.1:p.Leu14=
NM_001943.3:c.42C>T , LRG_397t1:c.42C>T NP_001934.2:p.Leu14=
NM_001943.4:c.42C>T NP_001934.2:p.Leu14=
NM_001943.5:c.42C>T MANE Select NP_001934.2:p.Leu14=
Search 100 bp 5'
Search 100 bp 3'