Canonical Allele Identifier: CA021979
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199794
ClinVar RCV Id: RCV000642312
dbSNP Id: rs201966605
ExAC: 18:29126467 G / A
gnomAD v2: 18-29126467-G-A
gnomAD v3: 18-31546504-G-A
gnomAD v4: 18-31546504-G-A
MyVariant Identifiers: chr18:g.29126467G>A (hg19) chr18:g.31546504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546504G>A , CM000680.2:g.31546504G>A GRCh38
NC_000018.9:g.29126467G>A , CM000680.1:g.29126467G>A GRCh37
NC_000018.8:g.27380465G>A NCBI36
NG_007072.3:g.53263G>A , LRG_397:g.53263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3118G>A (DSG2) MANE Select ENSP00000261590.8:p.Val1040Ile
ENST00000261590.12:c.3118G>A (DSG2) ENSP00000261590.8:p.Val1040Ile
NM_001943.3:c.3118G>A , LRG_397t1:c.3118G>A (DSG2) NP_001934.2:p.Val1040Ile
NR_045216.1:n.1346-598C>T (DSG2-AS1)
NM_001943.4:c.3118G>A (DSG2) NP_001934.2:p.Val1040Ile
XM_024451095.1:c.2584G>A (DSG2) XP_024306863.1:p.Val862Ile
NM_001943.5:c.3118G>A (DSG2) MANE Select NP_001934.2:p.Val1040Ile
Search 100 bp 5'
Search 100 bp 3'