Canonical Allele Identifier: CA2147299551

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006141_75006142delinsTC , CM000676.2:g.75006141_75006142delinsTC	GRCh38
NC_000014.8:g.75472844_75472845delinsTC , CM000676.1:g.75472844_75472845delinsTC	GRCh37
NC_000014.7:g.74542597_74542598delinsTC	NCBI36
NG_013333.1:g.8233_8234delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+180_693+181delinsTC MANE Select	ENSP00000266126.5:n.693+180_693+181delinsTC
ENST00000266126.9:c.693+180_693+181delinsTC	ENSP00000266126.5:n.693+180_693+181delinsTC
ENST00000553401.5:c.691+180_691+181delinsTC	ENSP00000451681.1:n.691+180_691+181delinsTC
ENST00000554748.2:c.57+180_57+181delinsTC	ENSP00000452582.2:n.57+180_57+181delinsTC
ENST00000556028.5:c.*41+180_*41+181delinsTC	ENSP00000452311.1:n.*41+180_*41+181delinsTC
NM_014239.3:c.693+180_693+181delinsTC	NP_055054.1:n.693+180_693+181delinsTC
NM_014239.4:c.693+180_693+181delinsTC MANE Select	NP_055054.1:n.693+180_693+181delinsTC