Canonical Allele Identifier: CA046776
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222567
ClinVar RCV Id: RCV000208481
dbSNP Id: rs773831600
ExAC: 18:29126013 C / A
gnomAD v2: 18-29126013-C-A
gnomAD v3: 18-31546050-C-A
gnomAD v4: 18-31546050-C-A
MyVariant Identifiers: chr18:g.29126013C>A (hg19) chr18:g.31546050C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546050C>A , CM000680.2:g.31546050C>A GRCh38
NC_000018.9:g.29126013C>A , CM000680.1:g.29126013C>A GRCh37
NC_000018.8:g.27380011C>A NCBI36
NG_007072.3:g.52809C>A , LRG_397:g.52809C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2664C>A (DSG2) MANE Select ENSP00000261590.8:p.Phe888Leu
ENST00000261590.12:c.2664C>A (DSG2) ENSP00000261590.8:p.Phe888Leu
NM_001943.3:c.2664C>A , LRG_397t1:c.2664C>A (DSG2) NP_001934.2:p.Phe888Leu
NR_045216.1:n.1346-144G>T (DSG2-AS1)
NM_001943.4:c.2664C>A (DSG2) NP_001934.2:p.Phe888Leu
XM_024451095.1:c.2130C>A (DSG2) XP_024306863.1:p.Phe710Leu
NM_001943.5:c.2664C>A (DSG2) MANE Select NP_001934.2:p.Phe888Leu
Search 100 bp 5'
Search 100 bp 3'