Canonical Allele Identifier: CA402130553
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29099776C>A (hg19) chr18:g.31519813C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519813C>A , CM000680.2:g.31519813C>A GRCh38
NC_000018.9:g.29099776C>A , CM000680.1:g.29099776C>A GRCh37
NC_000018.8:g.27353774C>A NCBI36
NG_007072.3:g.26572C>A , LRG_397:g.26572C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.92C>A ENSP00000507600.2:p.Thr31Lys
ENST00000683654.1:c.92C>A ENSP00000506971.1:p.Thr31Lys
ENST00000261590.13:c.92C>A MANE Select ENSP00000261590.8:p.Thr31Lys
ENST00000261590.12:c.92C>A ENSP00000261590.8:p.Thr31Lys
ENST00000585206.1:c.92C>A ENSP00000462503.1:p.Thr31Lys
NM_001943.3:c.92C>A , LRG_397t1:c.92C>A NP_001934.2:p.Thr31Lys
NM_001943.4:c.92C>A NP_001934.2:p.Thr31Lys
XM_024451095.1:c.-443C>A XP_024306863.1:n.-443C>A
NM_001943.5:c.92C>A MANE Select NP_001934.2:p.Thr31Lys
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