Canonical Allele Identifier: CA257569
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 16673
ClinVar RCV Id: RCV000018153
dbSNP Id: rs267606783
MyVariant Identifiers: chr9:g.130616633A>G (hg19) chr9:g.127854354A>G (hg38)
PubMed: PMID:2601709 PMID:9554745
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854354A>G , CM000671.2:g.127854354A>G GRCh38
NC_000009.11:g.130616633A>G , CM000671.1:g.130616633A>G GRCh37
NC_000009.10:g.129656454A>G NCBI36
NG_009551.1:g.5415T>C , LRG_589:g.5415T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.2T>C MANE Select ENSP00000362299.4:p.Met1Thr
ENST00000344849.4:c.2T>C ENSP00000341917.3:p.Met1Thr
ENST00000373203.8:c.2T>C ENSP00000362299.4:p.Met1Thr
NM_000118.3:c.2T>C , LRG_589t1:c.2T>C NP_000109.1:p.Met1Thr
NM_001114753.2:c.2T>C , LRG_589t2:c.2T>C NP_001108225.1:p.Met1Thr
NM_001114753.3:c.2T>C MANE Select NP_001108225.1:p.Met1Thr
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