Canonical Allele Identifier: CA021268
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31531044G>A
GRCh37 chr18:g.29111007G>A
Revel Score:
ENST00000261590 (MANE Select) 0.289
gnomAD v2:
18:29111007 G / A
gnomAD v3:
18:31531044 G / A
gnomAD v4:
chr18-31531044-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531044G>A , CM000680.2:g.31531044G>A GRCh38
NC_000018.9:g.29111007G>A , CM000680.1:g.29111007G>A GRCh37
NC_000018.8:g.27365005G>A NCBI36
NG_007072.3:g.37803G>A , LRG_397:g.37803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.903G>A
ENST00000683614.1:c.903G>A
ENST00000261590.13:c.1072G>A MANE Select ENSP00000261590.8:p.Ala358Thr
ENST00000261590.12:c.1072G>A ENSP00000261590.8:p.Ala358Thr
NM_001943.3:c.1072G>A , LRG_397t1:c.1072G>A NP_001934.2:p.Ala358Thr
NM_001943.4:c.1072G>A NP_001934.2:p.Ala358Thr
XM_024451095.1:c.538G>A XP_024306863.1:p.Ala180Thr
NM_001943.5:c.1072G>A MANE Select NP_001934.2:p.Ala358Thr
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