Canonical Allele Identifier: CA374976461
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 458337
ClinVar RCV Id: RCV002231262
dbSNP Id: rs863223543

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818714A>T , CM000671.2:g.127818714A>T GRCh38
NC_000009.11:g.130580993A>T , CM000671.1:g.130580993A>T GRCh37
NC_000009.10:g.129620814A>T NCBI36
NG_009551.1:g.41055T>A , LRG_589:g.41055T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.882+2T>A ENSP00000479015.1:n.882+2T>A
ENST00000373203.9:c.1428+2T>A MANE Select ENSP00000362299.4:n.1428+2T>A
ENST00000344849.4:c.1428+2T>A ENSP00000341917.3:n.1428+2T>A
ENST00000373203.8:c.1428+2T>A ENSP00000362299.4:n.1428+2T>A
ENST00000480266.5:c.882+2T>A ENSP00000479015.1:n.882+2T>A
NM_000118.3:c.1428+2T>A , LRG_589t1:c.1428+2T>A NP_000109.1:n.1428+2T>A
NM_001114753.2:c.1428+2T>A , LRG_589t2:c.1428+2T>A NP_001108225.1:n.1428+2T>A
NM_001278138.1:c.882+2T>A NP_001265067.1:n.882+2T>A
NR_136302.1:n.1568+3A>T
NM_001114753.3:c.1428+2T>A MANE Select NP_001108225.1:n.1428+2T>A
NM_001278138.2:c.882+2T>A NP_001265067.1:n.882+2T>A