Canonical Allele Identifier: CA402139988
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392281
ClinVar RCV Id: RCV001882145 RCV003533045
dbSNP Id: rs2144350910
COSMIC: COSM3525256
MyVariant Identifiers: chr18:g.29121276A>G (hg19) chr18:g.31541313A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541313A>G , CM000680.2:g.31541313A>G GRCh38
NC_000018.9:g.29121276A>G , CM000680.1:g.29121276A>G GRCh37
NC_000018.8:g.27375274A>G NCBI36
NG_007072.3:g.48072A>G , LRG_397:g.48072A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2000A>G MANE Select ENSP00000261590.8:p.Lys667Arg
ENST00000261590.12:c.2000A>G ENSP00000261590.8:p.Lys667Arg
NM_001943.3:c.2000A>G , LRG_397t1:c.2000A>G NP_001934.2:p.Lys667Arg
NM_001943.4:c.2000A>G NP_001934.2:p.Lys667Arg
XM_024451095.1:c.1466A>G XP_024306863.1:p.Lys489Arg
NM_001943.5:c.2000A>G MANE Select NP_001934.2:p.Lys667Arg
Search 100 bp 5'
Search 100 bp 3'