Canonical Allele Identifier: CA402139564
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29121219C>T (hg19) chr18:g.31541256C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541256C>T , CM000680.2:g.31541256C>T GRCh38
NC_000018.9:g.29121219C>T , CM000680.1:g.29121219C>T GRCh37
NC_000018.8:g.27375217C>T NCBI36
NG_007072.3:g.48015C>T , LRG_397:g.48015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1943C>T MANE Select ENSP00000261590.8:p.Pro648Leu
ENST00000261590.12:c.1943C>T ENSP00000261590.8:p.Pro648Leu
NM_001943.3:c.1943C>T , LRG_397t1:c.1943C>T NP_001934.2:p.Pro648Leu
NM_001943.4:c.1943C>T NP_001934.2:p.Pro648Leu
XM_024451095.1:c.1409C>T XP_024306863.1:p.Pro470Leu
NM_001943.5:c.1943C>T MANE Select NP_001934.2:p.Pro648Leu
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