Canonical Allele Identifier: CA2625712854

Gene: EIF2B2

Linked Data

• gnomAD v4: 14-75003470-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003473del , CM000676.2:g.75003473del	GRCh38
NC_000014.8:g.75470176del , CM000676.1:g.75470176del	GRCh37
NC_000014.7:g.74539929del	NCBI36
NG_013333.1:g.5565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.285-78del MANE Select	ENSP00000266126.5:n.285-78del
ENST00000266126.9:c.285-78del	ENSP00000266126.5:n.285-78del
ENST00000553401.5:c.258-78del	ENSP00000451681.1:n.258-78del
ENST00000553539.1:n.502del
ENST00000555522.1:n.343-78del
ENST00000556028.5:c.285-78del	ENSP00000452311.1:n.285-78del
NM_014239.3:c.285-78del	NP_055054.1:n.285-78del
NM_014239.4:c.285-78del MANE Select	NP_055054.1:n.285-78del