Canonical Allele Identifier: CA374982706
Gene: ENG HGNC NCBI

Linked Data

COSMIC: COSM280798

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824939C>A , CM000671.2:g.127824939C>A GRCh38
NC_000009.11:g.130587218C>A , CM000671.1:g.130587218C>A GRCh37
NC_000009.10:g.129627039C>A NCBI36
NG_009551.1:g.34830G>T , LRG_589:g.34830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.306G>T ENSP00000479015.1:p.Glu102Asp
ENST00000373203.9:c.852G>T MANE Select ENSP00000362299.4:p.Glu284Asp
ENST00000344849.4:c.852G>T ENSP00000341917.3:p.Glu284Asp
ENST00000373203.8:c.852G>T ENSP00000362299.4:p.Glu284Asp
ENST00000480266.5:c.306G>T ENSP00000479015.1:p.Glu102Asp
NM_000118.3:c.852G>T , LRG_589t1:c.852G>T NP_000109.1:p.Glu284Asp
NM_001114753.2:c.852G>T , LRG_589t2:c.852G>T NP_001108225.1:p.Glu284Asp
NM_001278138.1:c.306G>T NP_001265067.1:p.Glu102Asp
NM_001114753.3:c.852G>T MANE Select NP_001108225.1:p.Glu284Asp
NM_001278138.2:c.306G>T NP_001265067.1:p.Glu102Asp