Canonical Allele Identifier: CA048401
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
ClinVar RCV:
RCV000479999
RCV000537280
RCV001177921
RCV002323815
RCV004002240
ClinVar Variation:
418169
dbSNP:
368703304
gnomAD v2:
18:29126702 C / T
gnomAD v3:
18:31546739 C / T
gnomAD v4:
chr18-31546739-C-T
Joint Max Group AF 0.00031013 (AFR)
Genomes Max Group AF 0.00028016 (AFR)
Exomes Max Group AF 0.00025248 (AFR)
MyVariant.info:
GRCh38 chr18:g.31546739C>T
GRCh37 chr18:g.29126702C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546739C>T , CM000680.2:g.31546739C>T GRCh38
NC_000018.9:g.29126702C>T , CM000680.1:g.29126702C>T GRCh37
NC_000018.8:g.27380700C>T NCBI36
NG_007072.3:g.53498C>T , LRG_397:g.53498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3353C>T (DSG2) MANE Select ENSP00000261590.8:p.Ser1118Phe
ENST00000261590.12:c.3353C>T (DSG2) ENSP00000261590.8:p.Ser1118Phe
NM_001943.3:c.3353C>T , LRG_397t1:c.3353C>T (DSG2) NP_001934.2:p.Ser1118Phe
NR_045216.1:n.1346-833G>A (DSG2-AS1)
NM_001943.4:c.3353C>T (DSG2) NP_001934.2:p.Ser1118Phe
XM_024451095.1:c.2819C>T (DSG2) XP_024306863.1:p.Ser940Phe
NM_001943.5:c.3353C>T (DSG2) MANE Select NP_001934.2:p.Ser1118Phe
Search 100 bp 5'
Search 100 bp 3'