Canonical Allele Identifier: CA021844
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31546033T>C
GRCh37 chr18:g.29125996T>C
Revel Score:
ENST00000261590 (MANE Select) 0.033
gnomAD v2:
18:29125996 T / C
gnomAD v3:
18:31546033 T / C
gnomAD v4:
chr18-31546033-T-C
Joint Max Group AF 0.02041686 (AFR)
Genomes Max Group AF 0.01977853 (AFR)
Exomes Max Group AF 0.02041497 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546033T>C , CM000680.2:g.31546033T>C GRCh38
NC_000018.9:g.29125996T>C , CM000680.1:g.29125996T>C GRCh37
NC_000018.8:g.27379994T>C NCBI36
NG_007072.3:g.52792T>C , LRG_397:g.52792T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2647T>C (DSG2) MANE Select ENSP00000261590.8:p.Ser883Pro
ENST00000261590.12:c.2647T>C (DSG2) ENSP00000261590.8:p.Ser883Pro
NM_001943.3:c.2647T>C , LRG_397t1:c.2647T>C (DSG2) NP_001934.2:p.Ser883Pro
NR_045216.1:n.1346-127A>G (DSG2-AS1)
NM_001943.4:c.2647T>C (DSG2) NP_001934.2:p.Ser883Pro
XM_024451095.1:c.2113T>C (DSG2) XP_024306863.1:p.Ser705Pro
NM_001943.5:c.2647T>C (DSG2) MANE Select NP_001934.2:p.Ser883Pro
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