Canonical Allele Identifier: CA5252951
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 528083
ClinVar RCV Id: RCV000633165 RCV001165467 RCV002292573 RCV002413813
dbSNP Id: rs372045549
ExAC: 9:130587220 C / T
gnomAD v2: 9-130587220-C-T
gnomAD v3: 9-127824941-C-T
gnomAD v4: 9-127824941-C-T
MyVariant Identifiers: chr9:g.130587220C>T (hg19) chr9:g.127824941C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824941C>T , CM000671.2:g.127824941C>T GRCh38
NC_000009.11:g.130587220C>T , CM000671.1:g.130587220C>T GRCh37
NC_000009.10:g.129627041C>T NCBI36
NG_009551.1:g.34828G>A , LRG_589:g.34828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.304G>A ENSP00000479015.1:p.Glu102Lys
ENST00000373203.9:c.850G>A MANE Select ENSP00000362299.4:p.Glu284Lys
ENST00000344849.4:c.850G>A ENSP00000341917.3:p.Glu284Lys
ENST00000373203.8:c.850G>A ENSP00000362299.4:p.Glu284Lys
ENST00000480266.5:c.304G>A ENSP00000479015.1:p.Glu102Lys
NM_000118.3:c.850G>A , LRG_589t1:c.850G>A NP_000109.1:p.Glu284Lys
NM_001114753.2:c.850G>A , LRG_589t2:c.850G>A NP_001108225.1:p.Glu284Lys
NM_001278138.1:c.304G>A NP_001265067.1:p.Glu102Lys
NM_001114753.3:c.850G>A MANE Select NP_001108225.1:p.Glu284Lys
NM_001278138.2:c.304G>A NP_001265067.1:p.Glu102Lys
Search 100 bp 5'
Search 100 bp 3'