Canonical Allele Identifier: CA402139433
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1072A>T
ENST00000683614.1:c.1072A>T
ENST00000261590.13:c.1241A>T MANE Select ENSP00000261590.8:p.Gln414Leu
ENST00000261590.12:c.1241A>T ENSP00000261590.8:p.Gln414Leu
NM_001943.3:c.1241A>T , LRG_397t1:c.1241A>T NP_001934.2:p.Gln414Leu
NM_001943.4:c.1241A>T NP_001934.2:p.Gln414Leu
XM_024451095.1:c.707A>T XP_024306863.1:p.Gln236Leu
NM_001943.5:c.1241A>T MANE Select NP_001934.2:p.Gln414Leu