Canonical Allele Identifier: CA402141438
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536266T>G , CM000680.2:g.31536266T>G GRCh38
NC_000018.9:g.29116229T>G , CM000680.1:g.29116229T>G GRCh37
NC_000018.8:g.27370227T>G NCBI36
NG_007072.3:g.43025T>G , LRG_397:g.43025T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1488T>G MANE Select ENSP00000261590.8:p.Cys496Trp
ENST00000261590.12:c.1488T>G ENSP00000261590.8:p.Cys496Trp
NM_001943.3:c.1488T>G , LRG_397t1:c.1488T>G NP_001934.2:p.Cys496Trp
NM_001943.4:c.1488T>G NP_001934.2:p.Cys496Trp
XM_024451095.1:c.954T>G XP_024306863.1:p.Cys318Trp
NM_001943.5:c.1488T>G MANE Select NP_001934.2:p.Cys496Trp