Canonical Allele Identifier: CA2147298360

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003520_75003524delinsCCTCT , CM000676.2:g.75003520_75003524delinsCCTCT	GRCh38
NC_000014.8:g.75470223_75470227delinsCCTCT , CM000676.1:g.75470223_75470227delinsCCTCT	GRCh37
NC_000014.7:g.74539976_74539980delinsCCTCT	NCBI36
NG_013333.1:g.5612_5616delinsCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.285-31_285-27delinsCCTCT MANE Select	ENSP00000266126.5:n.285-31_285-27delinsCCTCT
ENST00000266126.9:c.285-31_285-27delinsCCTCT	ENSP00000266126.5:n.285-31_285-27delinsCCTCT
ENST00000553401.5:c.258-31_258-27delinsCCTCT	ENSP00000451681.1:n.258-31_258-27delinsCCTCT
ENST00000553539.1:n.549_553delinsCCTCT
ENST00000555522.1:n.343-31_343-27delinsCCTCT
ENST00000556028.5:c.285-31_285-27delinsCCTCT	ENSP00000452311.1:n.285-31_285-27delinsCCTCT
NM_014239.3:c.285-31_285-27delinsCCTCT	NP_055054.1:n.285-31_285-27delinsCCTCT
NM_014239.4:c.285-31_285-27delinsCCTCT MANE Select	NP_055054.1:n.285-31_285-27delinsCCTCT