Canonical Allele Identifier: CA7275116

Gene: EIF2B2

Linked Data

• ClinVar Variation Id: 2903367
• ClinVar RCV Id: RCV003726707
• dbSNP Id: rs777036076
• ExAC: 14:75475789 A / C
• gnomAD v2: 14-75475789-A-C
• gnomAD v3: 14-75009086-A-C
• gnomAD v4: 14-75009086-A-C
• MyVariant Identifiers: chr14:g.75475789A>C (hg19) ; chr14:g.75009086A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75009086A>C , CM000676.2:g.75009086A>C	GRCh38
NC_000014.8:g.75475789A>C , CM000676.1:g.75475789A>C	GRCh37
NC_000014.7:g.74545542A>C	NCBI36
NG_013333.1:g.11178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.954A>C MANE Select	ENSP00000266126.5:p.Pro318=
ENST00000266126.9:c.954A>C	ENSP00000266126.5:p.Pro318=
ENST00000556668.1:n.534A>C
NM_014239.3:c.954A>C	NP_055054.1:p.Pro318=
NM_014239.4:c.954A>C MANE Select	NP_055054.1:p.Pro318=