Canonical Allele Identifier: CA2293859810
Community Standard Title: NM_001943.5(DSG2):c.1195G= (p.Glu399=)
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531167G= , CM000680.2:g.31531167G= GRCh38
NC_000018.9:g.29111130G= , CM000680.1:g.29111130G= GRCh37
NC_000018.8:g.27365128G= NCBI36
NG_007072.3:g.37926G= , LRG_397:g.37926G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.1195G= MANE Select NP_001934.2:p.Glu399=
ENST00000261590.13:c.1195G= MANE Select ENSP00000261590.8:p.Glu399=
NM_001943.3:c.1195G= , LRG_397t1:c.1195G= NP_001934.2:p.Glu399=
NM_001943.4:c.1195G= NP_001934.2:p.Glu399=
ENST00000261590.12:c.1195G= ENSP00000261590.8:p.Glu399=
ENST00000683614.1:c.1026G=
ENST00000683614.2:n.1026G=
XM_024451095.1:c.661G= XP_024306863.1:p.Glu221=