Canonical Allele Identifier: CA988919906
Gene: DSG2 HGNC NCBI
gnomAD v3:
18:31522058 T / C
gnomAD v4:
chr18-31522058-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522058T>C , CM000680.2:g.31522058T>C GRCh38
NC_000018.9:g.29102021T>C , CM000680.1:g.29102021T>C GRCh37
NC_000018.8:g.27356019T>C NCBI36
NG_007072.3:g.28817T>C , LRG_397:g.28817T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.355-25T>C
ENST00000682241.2:c.524-25T>C ENSP00000507600.2:n.524-25T>C
ENST00000683614.2:n.355-25T>C
ENST00000682087.1:c.355-25T>C
ENST00000682241.1:c.355-25T>C
ENST00000683614.1:c.355-25T>C
ENST00000683654.1:c.524-25T>C ENSP00000506971.1:n.524-25T>C
ENST00000684461.1:n.1169T>C
ENST00000261590.13:c.524-25T>C MANE Select ENSP00000261590.8:n.524-25T>C
ENST00000261590.12:c.524-25T>C ENSP00000261590.8:n.524-25T>C
ENST00000585206.1:c.524-25T>C ENSP00000462503.1:n.524-25T>C
NM_001943.3:c.524-25T>C , LRG_397t1:c.524-25T>C NP_001934.2:n.524-25T>C
NM_001943.4:c.524-25T>C NP_001934.2:n.524-25T>C
XM_024451095.1:c.-11-25T>C XP_024306863.1:n.-11-25T>C
NM_001943.5:c.524-25T>C MANE Select NP_001934.2:n.524-25T>C
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