Canonical Allele Identifier: CA022084
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31521111G>A
GRCh37 chr18:g.29101074G>A
Revel Score:
ENST00000261590 (MANE Select) 0.740
gnomAD v2:
18:29101074 G / A
gnomAD v3:
18:31521111 G / A
gnomAD v4:
chr18-31521111-G-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000741 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521111G>A , CM000680.2:g.31521111G>A GRCh38
NC_000018.9:g.29101074G>A , CM000680.1:g.29101074G>A GRCh37
NC_000018.8:g.27355072G>A NCBI36
NG_007072.3:g.27870G>A , LRG_397:g.27870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.222G>A
ENST00000682241.2:c.391G>A ENSP00000507600.2:p.Ala131Thr
ENST00000683614.2:n.222G>A
ENST00000682087.1:c.222G>A
ENST00000682241.1:c.222G>A
ENST00000683614.1:c.222G>A
ENST00000683654.1:c.391G>A ENSP00000506971.1:p.Ala131Thr
ENST00000684461.1:n.222G>A
ENST00000261590.13:c.391G>A MANE Select ENSP00000261590.8:p.Ala131Thr
ENST00000261590.12:c.391G>A ENSP00000261590.8:p.Ala131Thr
ENST00000585206.1:c.391G>A ENSP00000462503.1:p.Ala131Thr
NM_001943.3:c.391G>A , LRG_397t1:c.391G>A NP_001934.2:p.Ala131Thr
NM_001943.4:c.391G>A NP_001934.2:p.Ala131Thr
XM_024451095.1:c.-144G>A XP_024306863.1:n.-144G>A
NM_001943.5:c.391G>A MANE Select NP_001934.2:p.Ala131Thr
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