Canonical Allele Identifier: CA021781
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31545785C>G
GRCh37 chr18:g.29125748C>G
Revel Score:
ENST00000261590 (MANE Select) 0.430
gnomAD v3:
18:31545785 C / G
gnomAD v4:
chr18-31545785-C-G
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545785C>G , CM000680.2:g.31545785C>G GRCh38
NC_000018.9:g.29125748C>G , CM000680.1:g.29125748C>G GRCh37
NC_000018.8:g.27379746C>G NCBI36
NG_007072.3:g.52544C>G , LRG_397:g.52544C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2399C>G (DSG2) MANE Select ENSP00000261590.8:p.Ser800Cys
ENST00000261590.12:c.2399C>G (DSG2) ENSP00000261590.8:p.Ser800Cys
NM_001943.3:c.2399C>G , LRG_397t1:c.2399C>G (DSG2) NP_001934.2:p.Ser800Cys
NR_045216.1:n.1467G>C (DSG2-AS1)
NM_001943.4:c.2399C>G (DSG2) NP_001934.2:p.Ser800Cys
XM_024451095.1:c.1865C>G (DSG2) XP_024306863.1:p.Ser622Cys
NM_001943.5:c.2399C>G (DSG2) MANE Select NP_001934.2:p.Ser800Cys
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