Canonical Allele Identifier: CA021523
Gene: DSG2 HGNC NCBI
COSMIC:
COSM4877197 (not active)
MyVariant.info:
GRCh38 chr18:g.31519887G>A
GRCh37 chr18:g.29099850G>A
Revel Score:
ENST00000261590 (MANE Select) 0.291
gnomAD v2:
18:29099850 G / A
gnomAD v3:
18:31519887 G / A
gnomAD v4:
chr18-31519887-G-A
Joint Max Group AF 0.00299203 (NFE)
Genomes Max Group AF 0.00281442 (NFE)
Exomes Max Group AF 0.00298456 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519887G>A , CM000680.2:g.31519887G>A GRCh38
NC_000018.9:g.29099850G>A , CM000680.1:g.29099850G>A GRCh37
NC_000018.8:g.27353848G>A NCBI36
NG_007072.3:g.26646G>A , LRG_397:g.26646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.166G>A ENSP00000507600.2:p.Val56Met
ENST00000683654.1:c.166G>A ENSP00000506971.1:p.Val56Met
ENST00000261590.13:c.166G>A MANE Select ENSP00000261590.8:p.Val56Met
ENST00000261590.12:c.166G>A ENSP00000261590.8:p.Val56Met
ENST00000585206.1:c.166G>A ENSP00000462503.1:p.Val56Met
NM_001943.3:c.166G>A , LRG_397t1:c.166G>A NP_001934.2:p.Val56Met
NM_001943.4:c.166G>A NP_001934.2:p.Val56Met
XM_024451095.1:c.-369G>A XP_024306863.1:n.-369G>A
NM_001943.5:c.166G>A MANE Select NP_001934.2:p.Val56Met
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