Canonical Allele Identifier: CA402141295
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116200A>T (hg19) chr18:g.31536237A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536237A>T , CM000680.2:g.31536237A>T GRCh38
NC_000018.9:g.29116200A>T , CM000680.1:g.29116200A>T GRCh37
NC_000018.8:g.27370198A>T NCBI36
NG_007072.3:g.42996A>T , LRG_397:g.42996A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1459A>T MANE Select ENSP00000261590.8:p.Ile487Phe
ENST00000261590.12:c.1459A>T ENSP00000261590.8:p.Ile487Phe
NM_001943.3:c.1459A>T , LRG_397t1:c.1459A>T NP_001934.2:p.Ile487Phe
NM_001943.4:c.1459A>T NP_001934.2:p.Ile487Phe
XM_024451095.1:c.925A>T XP_024306863.1:p.Ile309Phe
NM_001943.5:c.1459A>T MANE Select NP_001934.2:p.Ile487Phe
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