Canonical Allele Identifier: CA021624
Gene: DSG2 HGNC NCBI
COSMIC:
COSM291332
MyVariant.info:
GRCh38 chr18:g.31541225G>A
GRCh37 chr18:g.29121188G>A
Revel Score:
ENST00000261590 (MANE Select) 0.367
gnomAD v2:
18:29121188 G / A
gnomAD v3:
18:31541225 G / A
gnomAD v4:
chr18-31541225-G-A
Joint Max Group AF 0.00016812 (NFE)
Genomes Max Group AF 0.00013493 (NFE)
Exomes Max Group AF 0.0001658 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541225G>A , CM000680.2:g.31541225G>A GRCh38
NC_000018.9:g.29121188G>A , CM000680.1:g.29121188G>A GRCh37
NC_000018.8:g.27375186G>A NCBI36
NG_007072.3:g.47984G>A , LRG_397:g.47984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1912G>A MANE Select ENSP00000261590.8:p.Gly638Arg
ENST00000261590.12:c.1912G>A ENSP00000261590.8:p.Gly638Arg
NM_001943.3:c.1912G>A , LRG_397t1:c.1912G>A NP_001934.2:p.Gly638Arg
NM_001943.4:c.1912G>A NP_001934.2:p.Gly638Arg
XM_024451095.1:c.1378G>A XP_024306863.1:p.Gly460Arg
NM_001943.5:c.1912G>A MANE Select NP_001934.2:p.Gly638Arg
Search 100 bp 5'
Search 100 bp 3'