Canonical Allele Identifier: CA374985611

Gene: ENG

Linked Data

• ClinVar Variation Id: 2017170
• ClinVar RCV Id: RCV002835067
• MyVariant Identifiers: chr9:g.130591964A>G (hg19) ; chr9:g.127829685A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829685A>G , CM000671.2:g.127829685A>G	GRCh38
NC_000009.11:g.130591964A>G , CM000671.1:g.130591964A>G	GRCh37
NC_000009.10:g.129631785A>G	NCBI36
NG_009551.1:g.30084T>C , LRG_589:g.30084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+2T>C	ENSP00000479015.1:n.-187+2T>C
ENST00000373203.9:c.360+2T>C MANE Select	ENSP00000362299.4:n.360+2T>C
ENST00000344849.4:c.360+2T>C	ENSP00000341917.3:n.360+2T>C
ENST00000373203.8:c.360+2T>C	ENSP00000362299.4:n.360+2T>C
ENST00000462196.1:n.118+2T>C
ENST00000480266.5:c.-187+2T>C	ENSP00000479015.1:n.-187+2T>C
NM_000118.3:c.360+2T>C , LRG_589t1:c.360+2T>C	NP_000109.1:n.360+2T>C
NM_001114753.2:c.360+2T>C , LRG_589t2:c.360+2T>C	NP_001108225.1:n.360+2T>C
NM_001278138.1:c.-187+2T>C	NP_001265067.1:n.-187+2T>C
XR_001746952.2:n.83-2713A>G
NM_001114753.3:c.360+2T>C MANE Select	NP_001108225.1:n.360+2T>C
NM_001278138.2:c.-187+2T>C	NP_001265067.1:n.-187+2T>C