Canonical Allele Identifier: CA487176586

Gene: EIF2B2

Linked Data

• MyVariant Identifiers: chr14:g.75470257C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003554C>T , CM000676.2:g.75003554C>T	GRCh38
NC_000014.8:g.75470257C>T , CM000676.1:g.75470257C>T	GRCh37
NC_000014.7:g.74540010C>T	NCBI36
NG_013333.1:g.5646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.288C>T MANE Select	ENSP00000266126.5:p.Leu96=
ENST00000266126.9:c.288C>T	ENSP00000266126.5:p.Leu96=
ENST00000553401.5:c.261C>T	ENSP00000451681.1:p.Leu87=
ENST00000553539.1:n.583C>T
ENST00000555522.1:n.346C>T
ENST00000556028.5:c.288C>T	ENSP00000452311.1:p.Leu96=
NM_014239.3:c.288C>T	NP_055054.1:p.Leu96=
NM_014239.4:c.288C>T MANE Select	NP_055054.1:p.Leu96=