Canonical Allele Identifier: CA2147299565

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006188_75006189delinsTG , CM000676.2:g.75006188_75006189delinsTG	GRCh38
NC_000014.8:g.75472891_75472892delinsTG , CM000676.1:g.75472891_75472892delinsTG	GRCh37
NC_000014.7:g.74542644_74542645delinsTG	NCBI36
NG_013333.1:g.8280_8281delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+227_693+228delinsTG MANE Select	ENSP00000266126.5:n.693+227_693+228delinsTG
ENST00000266126.9:c.693+227_693+228delinsTG	ENSP00000266126.5:n.693+227_693+228delinsTG
ENST00000553401.5:c.691+227_691+228delinsTG	ENSP00000451681.1:n.691+227_691+228delinsTG
ENST00000554748.2:c.57+227_57+228delinsTG	ENSP00000452582.2:n.57+227_57+228delinsTG
ENST00000556028.5:c.*41+227_*41+228delinsTG	ENSP00000452311.1:n.*41+227_*41+228delinsTG
NM_014239.3:c.693+227_693+228delinsTG	NP_055054.1:n.693+227_693+228delinsTG
NM_014239.4:c.693+227_693+228delinsTG MANE Select	NP_055054.1:n.693+227_693+228delinsTG