Canonical Allele Identifier: CA2838244302

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006809C>G , CM000676.2:g.75006809C>G	GRCh38
NC_000014.8:g.75473512C>G , CM000676.1:g.75473512C>G	GRCh37
NC_000014.7:g.74543265C>G	NCBI36
NG_013333.1:g.8901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.831+95C>G MANE Select	ENSP00000266126.5:n.831+95C>G
ENST00000266126.9:c.831+95C>G	ENSP00000266126.5:n.831+95C>G
ENST00000553401.5:c.829+95C>G	ENSP00000451681.1:n.829+95C>G
ENST00000554748.2:c.195+95C>G	ENSP00000452582.2:n.195+95C>G
ENST00000556028.5:c.*179+95C>G	ENSP00000452311.1:n.*179+95C>G
ENST00000556668.1:n.411+95C>G
NM_014239.3:c.831+95C>G	NP_055054.1:n.831+95C>G
NM_014239.4:c.831+95C>G MANE Select	NP_055054.1:n.831+95C>G