Canonical Allele Identifier: CA2147298334

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003470_75003472delinsCTT , CM000676.2:g.75003470_75003472delinsCTT	GRCh38
NC_000014.8:g.75470173_75470175delinsCTT , CM000676.1:g.75470173_75470175delinsCTT	GRCh37
NC_000014.7:g.74539926_74539928delinsCTT	NCBI36
NG_013333.1:g.5562_5564delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.284+75_284+77delinsCTT MANE Select	ENSP00000266126.5:n.284+75_284+77delinsCTT
ENST00000266126.9:c.284+75_284+77delinsCTT	ENSP00000266126.5:n.284+75_284+77delinsCTT
ENST00000553401.5:c.257+75_257+77delinsCTT	ENSP00000451681.1:n.257+75_257+77delinsCTT
ENST00000553539.1:n.499_501delinsCTT
ENST00000555522.1:n.342+75_342+77delinsCTT
ENST00000556028.5:c.284+75_284+77delinsCTT	ENSP00000452311.1:n.284+75_284+77delinsCTT
NM_014239.3:c.284+75_284+77delinsCTT	NP_055054.1:n.284+75_284+77delinsCTT
NM_014239.4:c.284+75_284+77delinsCTT MANE Select	NP_055054.1:n.284+75_284+77delinsCTT