Canonical Allele Identifier: CA324588

Gene: ENG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825693A>G , CM000671.2:g.127825693A>G	GRCh38
NC_000009.11:g.130587972A>G , CM000671.1:g.130587972A>G	GRCh37
NC_000009.10:g.129627793A>G	NCBI36
NG_009551.1:g.34076T>C , LRG_589:g.34076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.143+2T>C	ENSP00000479015.1:n.143+2T>C
ENST00000373203.9:c.689+2T>C MANE Select	ENSP00000362299.4:n.689+2T>C
ENST00000344849.4:c.689+2T>C	ENSP00000341917.3:n.689+2T>C
ENST00000373203.8:c.689+2T>C	ENSP00000362299.4:n.689+2T>C
ENST00000480266.5:c.143+2T>C	ENSP00000479015.1:n.143+2T>C
NM_000118.3:c.689+2T>C , LRG_589t1:c.689+2T>C	NP_000109.1:n.689+2T>C
NM_001114753.2:c.689+2T>C , LRG_589t2:c.689+2T>C	NP_001108225.1:n.689+2T>C
NM_001278138.1:c.143+2T>C	NP_001265067.1:n.143+2T>C
XR_001746952.2:n.82+235A>G
NM_001114753.3:c.689+2T>C MANE Select	NP_001108225.1:n.689+2T>C
NM_001278138.2:c.143+2T>C	NP_001265067.1:n.143+2T>C