Canonical Allele Identifier: CA402141948
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116334C>G (hg19) chr18:g.31536371C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536371C>G , CM000680.2:g.31536371C>G GRCh38
NC_000018.9:g.29116334C>G , CM000680.1:g.29116334C>G GRCh37
NC_000018.8:g.27370332C>G NCBI36
NG_007072.3:g.43130C>G , LRG_397:g.43130C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1593C>G MANE Select ENSP00000261590.8:p.Phe531Leu
ENST00000261590.12:c.1593C>G ENSP00000261590.8:p.Phe531Leu
NM_001943.3:c.1593C>G , LRG_397t1:c.1593C>G NP_001934.2:p.Phe531Leu
NM_001943.4:c.1593C>G NP_001934.2:p.Phe531Leu
XM_024451095.1:c.1059C>G XP_024306863.1:p.Phe353Leu
NM_001943.5:c.1593C>G MANE Select NP_001934.2:p.Phe531Leu
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