Canonical Allele Identifier: CA390430091

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75475755G>T (hg19) ; chr14:g.75009052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75009052G>T , CM000676.2:g.75009052G>T	GRCh38
NC_000014.8:g.75475755G>T , CM000676.1:g.75475755G>T	GRCh37
NC_000014.7:g.74545508G>T	NCBI36
NG_013333.1:g.11144G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266126.10:c.920G>T MANE Select	ENSP00000266126.5:p.Ser307Ile
ENST00000266126.9:c.920G>T	ENSP00000266126.5:p.Ser307Ile
ENST00000556668.1:n.500G>T
NM_014239.3:c.920G>T	NP_055054.1:p.Ser307Ile
NM_014239.4:c.920G>T MANE Select	NP_055054.1:p.Ser307Ile