Canonical Allele Identifier: CA2293855861
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522133C= , CM000680.2:g.31522133C= GRCh38
NC_000018.9:g.29102096C= , CM000680.1:g.29102096C= GRCh37
NC_000018.8:g.27356094C= NCBI36
NG_007072.3:g.28892C= , LRG_397:g.28892C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.405C=
ENST00000682241.2:c.574C= ENSP00000507600.2:p.Leu192=
ENST00000683614.2:n.405C=
ENST00000682087.1:c.405C=
ENST00000682241.1:c.405C=
ENST00000683614.1:c.405C=
ENST00000683654.1:c.574C= ENSP00000506971.1:p.Leu192=
ENST00000684461.1:n.1244C=
ENST00000261590.13:c.574C= MANE Select ENSP00000261590.8:p.Leu192=
ENST00000261590.12:c.574C= ENSP00000261590.8:p.Leu192=
ENST00000585206.1:c.574C= ENSP00000462503.1:p.Leu192=
NM_001943.3:c.574C= , LRG_397t1:c.574C= NP_001934.2:p.Leu192=
NM_001943.4:c.574C= NP_001934.2:p.Leu192=
XM_024451095.1:c.40C= XP_024306863.1:p.Leu14=
NM_001943.5:c.574C= MANE Select NP_001934.2:p.Leu192=