Canonical Allele Identifier: CA390424227

Gene: EIF2B2

Linked Data

• gnomAD v4: 14-75003552-C-G
• MyVariant Identifiers: chr14:g.75470255C>G (hg19) ; chr14:g.75003552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003552C>G , CM000676.2:g.75003552C>G	GRCh38
NC_000014.8:g.75470255C>G , CM000676.1:g.75470255C>G	GRCh37
NC_000014.7:g.74540008C>G	NCBI36
NG_013333.1:g.5644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.286C>G MANE Select	ENSP00000266126.5:p.Leu96Val
ENST00000266126.9:c.286C>G	ENSP00000266126.5:p.Leu96Val
ENST00000553401.5:c.259C>G	ENSP00000451681.1:p.Leu87Val
ENST00000553539.1:n.581C>G
ENST00000555522.1:n.344C>G
ENST00000556028.5:c.286C>G	ENSP00000452311.1:p.Leu96Val
NM_014239.3:c.286C>G	NP_055054.1:p.Leu96Val
NM_014239.4:c.286C>G MANE Select	NP_055054.1:p.Leu96Val