Canonical Allele Identifier: CA390426583

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75472620A>T (hg19) ; chr14:g.75005917A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005917A>T , CM000676.2:g.75005917A>T	GRCh38
NC_000014.8:g.75472620A>T , CM000676.1:g.75472620A>T	GRCh37
NC_000014.7:g.74542373A>T	NCBI36
NG_013333.1:g.8009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.649A>T MANE Select	ENSP00000266126.5:p.Met217Leu
ENST00000266126.9:c.649A>T	ENSP00000266126.5:p.Met217Leu
ENST00000553401.5:c.647A>T	ENSP00000451681.1:n.647A>T
ENST00000554748.2:c.13A>T	ENSP00000452582.2:p.Met5Leu
ENST00000556028.5:c.618A>T	ENSP00000452311.1:p.Ser206=
NM_014239.3:c.649A>T	NP_055054.1:p.Met217Leu
NM_014239.4:c.649A>T MANE Select	NP_055054.1:p.Met217Leu