Canonical Allele Identifier: CA402139432
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531213A>G , CM000680.2:g.31531213A>G GRCh38
NC_000018.9:g.29111176A>G , CM000680.1:g.29111176A>G GRCh37
NC_000018.8:g.27365174A>G NCBI36
NG_007072.3:g.37972A>G , LRG_397:g.37972A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1072A>G
ENST00000683614.1:c.1072A>G
ENST00000261590.13:c.1241A>G MANE Select ENSP00000261590.8:p.Gln414Arg
ENST00000261590.12:c.1241A>G ENSP00000261590.8:p.Gln414Arg
NM_001943.3:c.1241A>G , LRG_397t1:c.1241A>G NP_001934.2:p.Gln414Arg
NM_001943.4:c.1241A>G NP_001934.2:p.Gln414Arg
XM_024451095.1:c.707A>G XP_024306863.1:p.Gln236Arg
NM_001943.5:c.1241A>G MANE Select NP_001934.2:p.Gln414Arg