Canonical Allele Identifier: CA2147299562

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1889623666

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006185_75006187del , CM000676.2:g.75006185_75006187del	GRCh38
NC_000014.8:g.75472888_75472890del , CM000676.1:g.75472888_75472890del	GRCh37
NC_000014.7:g.74542641_74542643del	NCBI36
NG_013333.1:g.8277_8279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+224_693+226del MANE Select	ENSP00000266126.5:n.693+224_693+226del
ENST00000266126.9:c.693+224_693+226del	ENSP00000266126.5:n.693+224_693+226del
ENST00000553401.5:c.691+224_691+226del	ENSP00000451681.1:n.691+224_691+226del
ENST00000554748.2:c.57+224_57+226del	ENSP00000452582.2:n.57+224_57+226del
ENST00000556028.5:c.*41+224_*41+226del	ENSP00000452311.1:n.*41+224_*41+226del
NM_014239.3:c.693+224_693+226del	NP_055054.1:n.693+224_693+226del
NM_014239.4:c.693+224_693+226del MANE Select	NP_055054.1:n.693+224_693+226del