Canonical Allele Identifier: CA390426564

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75472614A>T (hg19) ; chr14:g.75005911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005911A>T , CM000676.2:g.75005911A>T	GRCh38
NC_000014.8:g.75472614A>T , CM000676.1:g.75472614A>T	GRCh37
NC_000014.7:g.74542367A>T	NCBI36
NG_013333.1:g.8003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.643A>T MANE Select	ENSP00000266126.5:p.Thr215Ser
ENST00000266126.9:c.643A>T	ENSP00000266126.5:p.Thr215Ser
ENST00000553401.5:c.641A>T	ENSP00000451681.1:n.641A>T
ENST00000554748.2:c.7A>T	ENSP00000452582.2:p.Thr3Ser
ENST00000556028.5:c.612A>T	ENSP00000452311.1:p.Gln204His
NM_014239.3:c.643A>T	NP_055054.1:p.Thr215Ser
NM_014239.4:c.643A>T MANE Select	NP_055054.1:p.Thr215Ser