Canonical Allele Identifier: CA402139303
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29111157C>A (hg19) chr18:g.31531194C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531194C>A , CM000680.2:g.31531194C>A GRCh38
NC_000018.9:g.29111157C>A , CM000680.1:g.29111157C>A GRCh37
NC_000018.8:g.27365155C>A NCBI36
NG_007072.3:g.37953C>A , LRG_397:g.37953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1053C>A
ENST00000683614.1:c.1053C>A
ENST00000261590.13:c.1222C>A MANE Select ENSP00000261590.8:p.Gln408Lys
ENST00000261590.12:c.1222C>A ENSP00000261590.8:p.Gln408Lys
NM_001943.3:c.1222C>A , LRG_397t1:c.1222C>A NP_001934.2:p.Gln408Lys
NM_001943.4:c.1222C>A NP_001934.2:p.Gln408Lys
XM_024451095.1:c.688C>A XP_024306863.1:p.Gln230Lys
NM_001943.5:c.1222C>A MANE Select NP_001934.2:p.Gln408Lys
Search 100 bp 5'
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