Canonical Allele Identifier: CA5252838

Gene: ENG

Linked Data

• ClinVar Variation Id: 528061
• ClinVar RCV Id: RCV002233945
• dbSNP Id: rs766272638
• ExAC: 9:130582192 A / G
• gnomAD v2: 9-130582192-A-G
• gnomAD v3: 9-127819913-A-G
• gnomAD v4: 9-127819913-A-G
• MyVariant Identifiers: chr9:g.130582192A>G (hg19) ; chr9:g.127819913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819913A>G , CM000671.2:g.127819913A>G	GRCh38
NC_000009.11:g.130582192A>G , CM000671.1:g.130582192A>G	GRCh37
NC_000009.10:g.129622013A>G	NCBI36
NG_009551.1:g.39856T>C , LRG_589:g.39856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.713T>C	ENSP00000479015.1:p.Met238Thr
ENST00000373203.9:c.1259T>C MANE Select	ENSP00000362299.4:p.Met420Thr
ENST00000344849.4:c.1259T>C	ENSP00000341917.3:p.Met420Thr
ENST00000373203.8:c.1259T>C	ENSP00000362299.4:p.Met420Thr
ENST00000480266.5:c.713T>C	ENSP00000479015.1:p.Met238Thr
ENST00000486329.1:n.227T>C
NM_000118.3:c.1259T>C , LRG_589t1:c.1259T>C	NP_000109.1:p.Met420Thr
NM_001114753.2:c.1259T>C , LRG_589t2:c.1259T>C	NP_001108225.1:p.Met420Thr
NM_001278138.1:c.713T>C	NP_001265067.1:p.Met238Thr
NR_136302.1:n.1568+1202A>G
NM_001114753.3:c.1259T>C MANE Select	NP_001108225.1:p.Met420Thr
NM_001278138.2:c.713T>C	NP_001265067.1:p.Met238Thr