Canonical Allele Identifier: CA2147298335

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1889572264

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003472_75003473del , CM000676.2:g.75003472_75003473del	GRCh38
NC_000014.8:g.75470175_75470176del , CM000676.1:g.75470175_75470176del	GRCh37
NC_000014.7:g.74539928_74539929del	NCBI36
NG_013333.1:g.5564_5565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.284+77_285-78del MANE Select	ENSP00000266126.5:n.284+77_285-78del
ENST00000266126.9:c.284+77_285-78del	ENSP00000266126.5:n.284+77_285-78del
ENST00000553401.5:c.257+77_258-78del	ENSP00000451681.1:n.257+77_258-78del
ENST00000553539.1:n.501_502del
ENST00000555522.1:n.342+77_343-78del
ENST00000556028.5:c.284+77_285-78del	ENSP00000452311.1:n.284+77_285-78del
NM_014239.3:c.284+77_285-78del	NP_055054.1:n.284+77_285-78del
NM_014239.4:c.284+77_285-78del MANE Select	NP_055054.1:n.284+77_285-78del