Canonical Allele Identifier: CA2147299561

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006182_75006185delinsAAAG , CM000676.2:g.75006182_75006185delinsAAAG	GRCh38
NC_000014.8:g.75472885_75472888delinsAAAG , CM000676.1:g.75472885_75472888delinsAAAG	GRCh37
NC_000014.7:g.74542638_74542641delinsAAAG	NCBI36
NG_013333.1:g.8274_8277delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+221_693+224delinsAAAG MANE Select	ENSP00000266126.5:n.693+221_693+224delinsAAAG
ENST00000266126.9:c.693+221_693+224delinsAAAG	ENSP00000266126.5:n.693+221_693+224delinsAAAG
ENST00000553401.5:c.691+221_691+224delinsAAAG	ENSP00000451681.1:n.691+221_691+224delinsAAAG
ENST00000554748.2:c.57+221_57+224delinsAAAG	ENSP00000452582.2:n.57+221_57+224delinsAAAG
ENST00000556028.5:c.*41+221_*41+224delinsAAAG	ENSP00000452311.1:n.*41+221_*41+224delinsAAAG
NM_014239.3:c.693+221_693+224delinsAAAG	NP_055054.1:n.693+221_693+224delinsAAAG
NM_014239.4:c.693+221_693+224delinsAAAG MANE Select	NP_055054.1:n.693+221_693+224delinsAAAG