Canonical Allele Identifier: CA2720711688
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs2131885676
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824282A>G , CM000671.2:g.127824282A>G GRCh38
NC_000009.11:g.130586561A>G , CM000671.1:g.130586561A>G GRCh37
NC_000009.10:g.129626382A>G NCBI36
NG_009551.1:g.35487T>C , LRG_589:g.35487T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.588+22T>C ENSP00000479015.1:n.588+22T>C
ENST00000373203.9:c.1134+22T>C MANE Select ENSP00000362299.4:n.1134+22T>C
ENST00000344849.4:c.1134+22T>C ENSP00000341917.3:n.1134+22T>C
ENST00000373203.8:c.1134+22T>C ENSP00000362299.4:n.1134+22T>C
ENST00000480266.5:c.588+22T>C ENSP00000479015.1:n.588+22T>C
ENST00000486329.1:n.102+22T>C
NM_000118.3:c.1134+22T>C , LRG_589t1:c.1134+22T>C NP_000109.1:n.1134+22T>C
NM_001114753.2:c.1134+22T>C , LRG_589t2:c.1134+22T>C NP_001108225.1:n.1134+22T>C
NM_001278138.1:c.588+22T>C NP_001265067.1:n.588+22T>C
NM_001114753.3:c.1134+22T>C MANE Select NP_001108225.1:n.1134+22T>C
NM_001278138.2:c.588+22T>C NP_001265067.1:n.588+22T>C
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