Canonical Allele Identifier: CA2641406393
Gene: DSG2 HGNC NCBI

Linked Data

gnomAD v4: 18-31531296-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531296T>G , CM000680.2:g.31531296T>G GRCh38
NC_000018.9:g.29111259T>G , CM000680.1:g.29111259T>G GRCh37
NC_000018.8:g.27365257T>G NCBI36
NG_007072.3:g.38055T>G , LRG_397:g.38055T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1155T>G
ENST00000683614.1:c.1155T>G
ENST00000261590.13:c.1280+44T>G MANE Select ENSP00000261590.8:n.1280+44T>G
ENST00000261590.12:c.1280+44T>G ENSP00000261590.8:n.1280+44T>G
NM_001943.3:c.1280+44T>G , LRG_397t1:c.1280+44T>G NP_001934.2:n.1280+44T>G
NM_001943.4:c.1280+44T>G NP_001934.2:n.1280+44T>G
XM_024451095.1:c.746+44T>G XP_024306863.1:n.746+44T>G
NM_001943.5:c.1280+44T>G MANE Select NP_001934.2:n.1280+44T>G
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