Canonical Allele Identifier: CA390424264

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75470265G>T (hg19) ; chr14:g.75003562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003562G>T , CM000676.2:g.75003562G>T	GRCh38
NC_000014.8:g.75470265G>T , CM000676.1:g.75470265G>T	GRCh37
NC_000014.7:g.74540018G>T	NCBI36
NG_013333.1:g.5654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.296G>T MANE Select	ENSP00000266126.5:p.Arg99Leu
ENST00000266126.9:c.296G>T	ENSP00000266126.5:p.Arg99Leu
ENST00000553401.5:c.269G>T	ENSP00000451681.1:p.Arg90Leu
ENST00000553539.1:n.591G>T
ENST00000555522.1:n.354G>T
ENST00000556028.5:c.296G>T	ENSP00000452311.1:p.Arg99Leu
NM_014239.3:c.296G>T	NP_055054.1:p.Arg99Leu
NM_014239.4:c.296G>T MANE Select	NP_055054.1:p.Arg99Leu