Canonical Allele Identifier: CA374988822

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843092A>C , CM000671.2:g.127843092A>C	GRCh38
NC_000009.11:g.130605371A>C , CM000671.1:g.130605371A>C	GRCh37
NC_000009.10:g.129645192A>C	NCBI36
NG_009551.1:g.16677T>G , LRG_589:g.16677T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.219+2T>G MANE Select	NP_001108225.1:n.219+2T>G
ENST00000373203.9:c.219+2T>G MANE Select	ENSP00000362299.4:n.219+2T>G
NM_000118.3:c.219+2T>G , LRG_589t1:c.219+2T>G	NP_000109.1:n.219+2T>G
NM_001114753.2:c.219+2T>G , LRG_589t2:c.219+2T>G	NP_001108225.1:n.219+2T>G
NM_001278138.1:c.-328+2T>G	NP_001265067.1:n.-328+2T>G
NM_001278138.2:c.-328+2T>G	NP_001265067.1:n.-328+2T>G
ENST00000344849.4:c.219+2T>G	ENSP00000341917.3:n.219+2T>G
ENST00000373203.8:c.219+2T>G	ENSP00000362299.4:n.219+2T>G
ENST00000480266.5:c.-328+2T>G	ENSP00000479015.1:n.-328+2T>G
ENST00000480266.6:c.-328+2T>G	ENSP00000479015.1:n.-328+2T>G