Canonical Allele Identifier: CA049167
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31521244G>T
GRCh37 chr18:g.29101207G>T
gnomAD v2:
18:29101207 G / T
gnomAD v4:
chr18-31521244-G-T
Joint Max Group AF 0.00000377 (SAS)
Exomes Max Group AF 0.00000399 (SAS)
ClinVar RCV:
RCV001785340
ClinVar Variation:
1325803
dbSNP:
553299589
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521244G>T , CM000680.2:g.31521244G>T GRCh38
NC_000018.9:g.29101207G>T , CM000680.1:g.29101207G>T GRCh37
NC_000018.8:g.27355205G>T NCBI36
NG_007072.3:g.28003G>T , LRG_397:g.28003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.354+1G>T
ENST00000682241.2:c.523+1G>T ENSP00000507600.2:n.523+1G>T
ENST00000683614.2:n.354+1G>T
ENST00000682087.1:c.354+1G>T
ENST00000682241.1:c.354+1G>T
ENST00000683614.1:c.354+1G>T
ENST00000683654.1:c.523+1G>T ENSP00000506971.1:n.523+1G>T
ENST00000684461.1:n.355G>T
ENST00000261590.13:c.523+1G>T MANE Select ENSP00000261590.8:n.523+1G>T
ENST00000261590.12:c.523+1G>T ENSP00000261590.8:n.523+1G>T
ENST00000585206.1:c.523+1G>T ENSP00000462503.1:n.523+1G>T
NM_001943.3:c.523+1G>T , LRG_397t1:c.523+1G>T NP_001934.2:n.523+1G>T
NM_001943.4:c.523+1G>T NP_001934.2:n.523+1G>T
XM_024451095.1:c.-12+1G>T XP_024306863.1:n.-12+1G>T
NM_001943.5:c.523+1G>T MANE Select NP_001934.2:n.523+1G>T
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