Canonical Allele Identifier: CA402139106
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29121171T>A (hg19) chr18:g.31541208T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541208T>A , CM000680.2:g.31541208T>A GRCh38
NC_000018.9:g.29121171T>A , CM000680.1:g.29121171T>A GRCh37
NC_000018.8:g.27375169T>A NCBI36
NG_007072.3:g.47967T>A , LRG_397:g.47967T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1895T>A MANE Select ENSP00000261590.8:p.Leu632Gln
ENST00000261590.12:c.1895T>A ENSP00000261590.8:p.Leu632Gln
NM_001943.3:c.1895T>A , LRG_397t1:c.1895T>A NP_001934.2:p.Leu632Gln
NM_001943.4:c.1895T>A NP_001934.2:p.Leu632Gln
XM_024451095.1:c.1361T>A XP_024306863.1:p.Leu454Gln
NM_001943.5:c.1895T>A MANE Select NP_001934.2:p.Leu632Gln
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