Canonical Allele Identifier: CA2720710736

Gene: ENG

Linked Data

• dbSNP Id: rs2131935957

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127853945G>A , CM000671.2:g.127853945G>A	GRCh38
NC_000009.11:g.130616224G>A , CM000671.1:g.130616224G>A	GRCh37
NC_000009.10:g.129656045G>A	NCBI36
NG_009551.1:g.5824C>T , LRG_589:g.5824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+344C>T MANE Select	ENSP00000362299.4:n.67+344C>T
ENST00000344849.4:c.67+344C>T	ENSP00000341917.3:n.67+344C>T
ENST00000373203.8:c.67+344C>T	ENSP00000362299.4:n.67+344C>T
NM_000118.3:c.67+344C>T , LRG_589t1:c.67+344C>T	NP_000109.1:n.67+344C>T
NM_001114753.2:c.67+344C>T , LRG_589t2:c.67+344C>T	NP_001108225.1:n.67+344C>T
NM_001114753.3:c.67+344C>T MANE Select	NP_001108225.1:n.67+344C>T