Canonical Allele Identifier: CA7275128

Gene: EIF2B2

Linked Data

• dbSNP Id: rs773725419
• ExAC: 14:75475876 T / TG
• gnomAD v2: 14-75475876-T-TG
• gnomAD v4: 14-75009173-T-TG
• MyVariant Identifiers: chr14:g.75475876_75475877insG (hg19) ; chr14:g.75009173_75009174insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75009174dup , CM000676.2:g.75009174dup	GRCh38
NC_000014.8:g.75475877dup , CM000676.1:g.75475877dup	GRCh37
NC_000014.7:g.74545630dup	NCBI36
NG_013333.1:g.11266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.1042dup MANE Select	ENSP00000266126.5:p.Asp348GlyfsTer16
ENST00000266126.9:c.1042dup	ENSP00000266126.5:p.Asp348GlyfsTer16
ENST00000556668.1:n.622dup
NM_014239.3:c.1042dup	NP_055054.1:p.Asp348GlyfsTer16
NM_014239.4:c.1042dup MANE Select	NP_055054.1:p.Asp348GlyfsTer16