Canonical Allele Identifier: CA2147299535

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006100_75006101delinsCT , CM000676.2:g.75006100_75006101delinsCT	GRCh38
NC_000014.8:g.75472803_75472804delinsCT , CM000676.1:g.75472803_75472804delinsCT	GRCh37
NC_000014.7:g.74542556_74542557delinsCT	NCBI36
NG_013333.1:g.8192_8193delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+139_693+140delinsCT MANE Select	ENSP00000266126.5:n.693+139_693+140delinsCT
ENST00000266126.9:c.693+139_693+140delinsCT	ENSP00000266126.5:n.693+139_693+140delinsCT
ENST00000553401.5:c.691+139_691+140delinsCT	ENSP00000451681.1:n.691+139_691+140delinsCT
ENST00000554748.2:c.57+139_57+140delinsCT	ENSP00000452582.2:n.57+139_57+140delinsCT
ENST00000556028.5:c.*41+139_*41+140delinsCT	ENSP00000452311.1:n.*41+139_*41+140delinsCT
NM_014239.3:c.693+139_693+140delinsCT	NP_055054.1:n.693+139_693+140delinsCT
NM_014239.4:c.693+139_693+140delinsCT MANE Select	NP_055054.1:n.693+139_693+140delinsCT