Canonical Allele Identifier: CA022188
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199828
ClinVar RCV Id: RCV000181246 RCV001192186 RCV003372641 RCV001041553 RCV003996628
dbSNP Id: rs763948986
ExAC: 18:29102084 G / A
gnomAD v2: 18-29102084-G-A
gnomAD v3: 18-31522121-G-A
gnomAD v4: 18-31522121-G-A
MyVariant Identifiers: chr18:g.29102084G>A (hg19) chr18:g.31522121G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522121G>A , CM000680.2:g.31522121G>A GRCh38
NC_000018.9:g.29102084G>A , CM000680.1:g.29102084G>A GRCh37
NC_000018.8:g.27356082G>A NCBI36
NG_007072.3:g.28880G>A , LRG_397:g.28880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.393G>A
ENST00000682241.2:c.562G>A ENSP00000507600.2:p.Glu188Lys
ENST00000683614.2:n.393G>A
ENST00000682087.1:c.393G>A
ENST00000682241.1:c.393G>A
ENST00000683614.1:c.393G>A
ENST00000683654.1:c.562G>A ENSP00000506971.1:p.Glu188Lys
ENST00000684461.1:n.1232G>A
ENST00000261590.13:c.562G>A MANE Select ENSP00000261590.8:p.Glu188Lys
ENST00000261590.12:c.562G>A ENSP00000261590.8:p.Glu188Lys
ENST00000585206.1:c.562G>A ENSP00000462503.1:p.Glu188Lys
NM_001943.3:c.562G>A , LRG_397t1:c.562G>A NP_001934.2:p.Glu188Lys
NM_001943.4:c.562G>A NP_001934.2:p.Glu188Lys
XM_024451095.1:c.28G>A XP_024306863.1:p.Glu10Lys
NM_001943.5:c.562G>A MANE Select NP_001934.2:p.Glu188Lys
Search 100 bp 5'
Search 100 bp 3'