Canonical Allele Identifier: CA021301
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31531167G>A
GRCh37 chr18:g.29111130G>A
Revel Score:
ENST00000261590 (MANE Select) 0.460
gnomAD v2:
18:29111130 G / A
gnomAD v3:
18:31531167 G / A
gnomAD v4:
chr18-31531167-G-A
Joint Max Group AF 0.00001454 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531167G>A , CM000680.2:g.31531167G>A GRCh38
NC_000018.9:g.29111130G>A , CM000680.1:g.29111130G>A GRCh37
NC_000018.8:g.27365128G>A NCBI36
NG_007072.3:g.37926G>A , LRG_397:g.37926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1026G>A
ENST00000683614.1:c.1026G>A
ENST00000261590.13:c.1195G>A MANE Select ENSP00000261590.8:p.Glu399Lys
ENST00000261590.12:c.1195G>A ENSP00000261590.8:p.Glu399Lys
NM_001943.3:c.1195G>A , LRG_397t1:c.1195G>A NP_001934.2:p.Glu399Lys
NM_001943.4:c.1195G>A NP_001934.2:p.Glu399Lys
XM_024451095.1:c.661G>A XP_024306863.1:p.Glu221Lys
NM_001943.5:c.1195G>A MANE Select NP_001934.2:p.Glu399Lys
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