Canonical Allele Identifier: CA2293856939
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524775_31524776delinsAT , CM000680.2:g.31524775_31524776delinsAT GRCh38
NC_000018.9:g.29104738_29104739delinsAT , CM000680.1:g.29104738_29104739delinsAT GRCh37
NC_000018.8:g.27358736_27358737delinsAT NCBI36
NG_007072.3:g.31534_31535delinsAT , LRG_397:g.31534_31535delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.732_733delinsAT
ENST00000683614.2:n.732_733delinsAT
ENST00000682087.1:c.732_733delinsAT
ENST00000683614.1:c.732_733delinsAT
ENST00000261590.13:c.901_902delinsAT MANE Select ENSP00000261590.8:p.Ile301=
ENST00000261590.12:c.901_902delinsAT ENSP00000261590.8:p.Ile301=
NM_001943.3:c.901_902delinsAT , LRG_397t1:c.901_902delinsAT NP_001934.2:p.Ile301=
NM_001943.4:c.901_902delinsAT NP_001934.2:p.Ile301=
XM_024451095.1:c.367_368delinsAT XP_024306863.1:p.Ile123=
NM_001943.5:c.901_902delinsAT MANE Select NP_001934.2:p.Ile301=