Canonical Allele Identifier: CA7275132

Gene: EIF2B2

Linked Data

• ClinVar Variation Id: 260364
• ClinVar RCV Id: RCV000248911 ; RCV000356744 ; RCV000367065
• dbSNP Id: rs112087431
• ExAC: 14:75475894 G / C
• gnomAD v2: 14-75475894-G-C
• gnomAD v3: 14-75009191-G-C
• gnomAD v4: 14-75009191-G-C
• MyVariant Identifiers: chr14:g.75475894G>C (hg19) ; chr14:g.75009191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75009191G>C , CM000676.2:g.75009191G>C	GRCh38
NC_000014.8:g.75475894G>C , CM000676.1:g.75475894G>C	GRCh37
NC_000014.7:g.74545647G>C	NCBI36
NG_013333.1:g.11283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.*3G>C MANE Select	ENSP00000266126.5:n.*3G>C
ENST00000266126.9:c.*3G>C	ENSP00000266126.5:n.*3G>C
ENST00000556668.1:n.639G>C
NM_014239.3:c.*3G>C	NP_055054.1:n.*3G>C
NM_014239.4:c.*3G>C MANE Select	NP_055054.1:n.*3G>C