Canonical Allele Identifier: CA390426375

Gene: EIF2B2

Linked Data

• COSMIC: COSM6318838
• MyVariant Identifiers: chr14:g.75472569G>T (hg19) ; chr14:g.75005866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005866G>T , CM000676.2:g.75005866G>T	GRCh38
NC_000014.8:g.75472569G>T , CM000676.1:g.75472569G>T	GRCh37
NC_000014.7:g.74542322G>T	NCBI36
NG_013333.1:g.7958G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.598G>T MANE Select	ENSP00000266126.5:p.Gly200Cys
ENST00000266126.9:c.598G>T	ENSP00000266126.5:p.Gly200Cys
ENST00000553401.5:c.596G>T	ENSP00000451681.1:p.Gly199Val
ENST00000556028.5:c.598-31G>T	ENSP00000452311.1:n.598-31G>T
NM_014239.3:c.598G>T	NP_055054.1:p.Gly200Cys
NM_014239.4:c.598G>T MANE Select	NP_055054.1:p.Gly200Cys