Canonical Allele Identifier: CA402140977
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29122497T>G (hg19) chr18:g.31542534T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542534T>G , CM000680.2:g.31542534T>G GRCh38
NC_000018.9:g.29122497T>G , CM000680.1:g.29122497T>G GRCh37
NC_000018.8:g.27376495T>G NCBI36
NG_007072.3:g.49293T>G , LRG_397:g.49293T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2016T>G (DSG2) MANE Select ENSP00000261590.8:p.Phe672Leu
ENST00000261590.12:c.2016T>G (DSG2) ENSP00000261590.8:p.Phe672Leu
NM_001943.3:c.2016T>G , LRG_397t1:c.2016T>G (DSG2) NP_001934.2:p.Phe672Leu
NR_045216.1:n.1811-213A>C (DSG2-AS1)
NM_001943.4:c.2016T>G (DSG2) NP_001934.2:p.Phe672Leu
XM_024451095.1:c.1482T>G (DSG2) XP_024306863.1:p.Phe494Leu
NM_001943.5:c.2016T>G (DSG2) MANE Select NP_001934.2:p.Phe672Leu
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