Canonical Allele Identifier: CA374982987

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825229A>G , CM000671.2:g.127825229A>G	GRCh38
NC_000009.11:g.130587508A>G , CM000671.1:g.130587508A>G	GRCh37
NC_000009.10:g.129627329A>G	NCBI36
NG_009551.1:g.34540T>C , LRG_589:g.34540T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.816+2T>C MANE Select	NP_001108225.1:n.816+2T>C
ENST00000373203.9:c.816+2T>C MANE Select	ENSP00000362299.4:n.816+2T>C
NM_000118.3:c.816+2T>C , LRG_589t1:c.816+2T>C	NP_000109.1:n.816+2T>C
NM_001114753.2:c.816+2T>C , LRG_589t2:c.816+2T>C	NP_001108225.1:n.816+2T>C
NM_001278138.1:c.270+2T>C	NP_001265067.1:n.270+2T>C
NM_001278138.2:c.270+2T>C	NP_001265067.1:n.270+2T>C
ENST00000344849.4:c.816+2T>C	ENSP00000341917.3:n.816+2T>C
ENST00000373203.8:c.816+2T>C	ENSP00000362299.4:n.816+2T>C
ENST00000480266.5:c.270+2T>C	ENSP00000479015.1:n.270+2T>C
ENST00000480266.6:c.270+2T>C	ENSP00000479015.1:n.270+2T>C