Canonical Allele Identifier: CA402139686
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541273C>G , CM000680.2:g.31541273C>G GRCh38
NC_000018.9:g.29121236C>G , CM000680.1:g.29121236C>G GRCh37
NC_000018.8:g.27375234C>G NCBI36
NG_007072.3:g.48032C>G , LRG_397:g.48032C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1960C>G MANE Select ENSP00000261590.8:p.Leu654Val
ENST00000261590.12:c.1960C>G ENSP00000261590.8:p.Leu654Val
NM_001943.3:c.1960C>G , LRG_397t1:c.1960C>G NP_001934.2:p.Leu654Val
NM_001943.4:c.1960C>G NP_001934.2:p.Leu654Val
XM_024451095.1:c.1426C>G XP_024306863.1:p.Leu476Val
NM_001943.5:c.1960C>G MANE Select NP_001934.2:p.Leu654Val