Canonical Allele Identifier: CA2147299499

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1889621864

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006016_75006019del , CM000676.2:g.75006016_75006019del	GRCh38
NC_000014.8:g.75472719_75472722del , CM000676.1:g.75472719_75472722del	GRCh37
NC_000014.7:g.74542472_74542475del	NCBI36
NG_013333.1:g.8108_8111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+55_693+58del MANE Select	ENSP00000266126.5:n.693+55_693+58del
ENST00000266126.9:c.693+55_693+58del	ENSP00000266126.5:n.693+55_693+58del
ENST00000553401.5:c.691+55_691+58del	ENSP00000451681.1:n.691+55_691+58del
ENST00000554748.2:c.57+55_57+58del	ENSP00000452582.2:n.57+55_57+58del
ENST00000556028.5:c.*41+55_*41+58del	ENSP00000452311.1:n.*41+55_*41+58del
NM_014239.3:c.693+55_693+58del	NP_055054.1:n.693+55_693+58del
NM_014239.4:c.693+55_693+58del MANE Select	NP_055054.1:n.693+55_693+58del