Canonical Allele Identifier: CA043385
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31538743C>T
GRCh37 chr18:g.29118706C>T
gnomAD v2:
18:29118706 C / T
gnomAD v3:
18:31538743 C / T
gnomAD v4:
chr18-31538743-C-T
Joint Max Group AF 0.00005303 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00005515 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31538743C>T , CM000680.2:g.31538743C>T GRCh38
NC_000018.9:g.29118706C>T , CM000680.1:g.29118706C>T GRCh37
NC_000018.8:g.27372704C>T NCBI36
NG_007072.3:g.45502C>T , LRG_397:g.45502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1652-8C>T MANE Select ENSP00000261590.8:n.1652-8C>T
ENST00000261590.12:c.1652-8C>T ENSP00000261590.8:n.1652-8C>T
NM_001943.3:c.1652-8C>T , LRG_397t1:c.1652-8C>T NP_001934.2:n.1652-8C>T
NM_001943.4:c.1652-8C>T NP_001934.2:n.1652-8C>T
XM_024451095.1:c.1118-8C>T XP_024306863.1:n.1118-8C>T
NM_001943.5:c.1652-8C>T MANE Select NP_001934.2:n.1652-8C>T
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