Canonical Allele Identifier: CA2575590222

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005811C>T , CM000676.2:g.75005811C>T	GRCh38
NC_000014.8:g.75472514C>T , CM000676.1:g.75472514C>T	GRCh37
NC_000014.7:g.74542267C>T	NCBI36
NG_013333.1:g.7903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266126.10:c.598-55C>T MANE Select	ENSP00000266126.5:n.598-55C>T
ENST00000266126.9:c.598-55C>T	ENSP00000266126.5:n.598-55C>T
ENST00000553401.5:c.571-30C>T	ENSP00000451681.1:n.571-30C>T
ENST00000556028.5:c.598-86C>T	ENSP00000452311.1:n.598-86C>T
NM_014239.3:c.598-55C>T	NP_055054.1:n.598-55C>T
NM_014239.4:c.598-55C>T MANE Select	NP_055054.1:n.598-55C>T