Canonical Allele Identifier: CA2147300706
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75008992_75009003delinsGCCTCAGTTTTA , CM000676.2:g.75008992_75009003delinsGCCTCAGTTTTA GRCh38
NC_000014.8:g.75475695_75475706delinsGCCTCAGTTTTA , CM000676.1:g.75475695_75475706delinsGCCTCAGTTTTA GRCh37
NC_000014.7:g.74545448_74545459delinsGCCTCAGTTTTA NCBI36
NG_013333.1:g.11084_11095delinsGCCTCAGTTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.899-39_899-28delinsGCCTCAGTTTTA MANE Select ENSP00000266126.5:n.899-39_899-28delinsGCCTCAGTTTTA
ENST00000266126.9:c.899-39_899-28delinsGCCTCAGTTTTA ENSP00000266126.5:n.899-39_899-28delinsGCCTCAGTTTTA
ENST00000556668.1:n.479-39_479-28delinsGCCTCAGTTTTA
NM_014239.3:c.899-39_899-28delinsGCCTCAGTTTTA NP_055054.1:n.899-39_899-28delinsGCCTCAGTTTTA
NM_014239.4:c.899-39_899-28delinsGCCTCAGTTTTA MANE Select NP_055054.1:n.899-39_899-28delinsGCCTCAGTTTTA