Canonical Allele Identifier: CA5252979

Gene: ENG

Linked Data

• ClinVar Variation Id: 2161145
• ClinVar RCV Id: RCV003087897
• dbSNP Id: rs764809807
• ExAC: 9:130587517 T / C
• gnomAD v2: 9-130587517-T-C
• gnomAD v4: 9-127825238-T-C
• MyVariant Identifiers: chr9:g.130587517T>C (hg19) ; chr9:g.127825238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825238T>C , CM000671.2:g.127825238T>C	GRCh38
NC_000009.11:g.130587517T>C , CM000671.1:g.130587517T>C	GRCh37
NC_000009.10:g.129627338T>C	NCBI36
NG_009551.1:g.34531A>G , LRG_589:g.34531A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.263A>G	ENSP00000479015.1:p.Gln88Arg
ENST00000373203.9:c.809A>G MANE Select	ENSP00000362299.4:p.Gln270Arg
ENST00000344849.4:c.809A>G	ENSP00000341917.3:p.Gln270Arg
ENST00000373203.8:c.809A>G	ENSP00000362299.4:p.Gln270Arg
ENST00000480266.5:c.263A>G	ENSP00000479015.1:p.Gln88Arg
NM_000118.3:c.809A>G , LRG_589t1:c.809A>G	NP_000109.1:p.Gln270Arg
NM_001114753.2:c.809A>G , LRG_589t2:c.809A>G	NP_001108225.1:p.Gln270Arg
NM_001278138.1:c.263A>G	NP_001265067.1:p.Gln88Arg
NM_001114753.3:c.809A>G MANE Select	NP_001108225.1:p.Gln270Arg
NM_001278138.2:c.263A>G	NP_001265067.1:p.Gln88Arg