Canonical Allele Identifier: CA041363
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579822
ClinVar RCV Id: RCV002093438
dbSNP Id: rs761947230
ExAC: 18:29099792 G / A
gnomAD v2: 18-29099792-G-A
gnomAD v3: 18-31519829-G-A
gnomAD v4: 18-31519829-G-A
MyVariant Identifiers: chr18:g.29099792G>A (hg19) chr18:g.31519829G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519829G>A , CM000680.2:g.31519829G>A GRCh38
NC_000018.9:g.29099792G>A , CM000680.1:g.29099792G>A GRCh37
NC_000018.8:g.27353790G>A NCBI36
NG_007072.3:g.26588G>A , LRG_397:g.26588G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682241.2:c.108G>A ENSP00000507600.2:p.Lys36=
ENST00000683654.1:c.108G>A ENSP00000506971.1:p.Lys36=
ENST00000261590.13:c.108G>A MANE Select ENSP00000261590.8:p.Lys36=
ENST00000261590.12:c.108G>A ENSP00000261590.8:p.Lys36=
ENST00000585206.1:c.108G>A ENSP00000462503.1:p.Lys36=
NM_001943.3:c.108G>A , LRG_397t1:c.108G>A NP_001934.2:p.Lys36=
NM_001943.4:c.108G>A NP_001934.2:p.Lys36=
XM_024451095.1:c.-427G>A XP_024306863.1:n.-427G>A
NM_001943.5:c.108G>A MANE Select NP_001934.2:p.Lys36=
Search 100 bp 5'
Search 100 bp 3'