Canonical Allele Identifier: CA7275055

Gene: EIF2B2

Linked Data

• ClinVar Variation Id: 495050
• ClinVar RCV Id: RCV002508235
• dbSNP Id: rs113994016
• ExAC: 14:75473404 A / G
• gnomAD v2: 14-75473404-A-G
• gnomAD v3: 14-75006701-A-G
• gnomAD v4: 14-75006701-A-G
• MyVariant Identifiers: chr14:g.75473404A>G (hg19) ; chr14:g.75006701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006701A>G , CM000676.2:g.75006701A>G	GRCh38
NC_000014.8:g.75473404A>G , CM000676.1:g.75473404A>G	GRCh37
NC_000014.7:g.74543157A>G	NCBI36
NG_013333.1:g.8793A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000266126.10:c.818A>G MANE Select	ENSP00000266126.5:p.Lys273Arg
ENST00000266126.9:c.818A>G	ENSP00000266126.5:p.Lys273Arg
ENST00000553401.5:c.816A>G	ENSP00000451681.1:n.816A>G
ENST00000554748.2:c.182A>G	ENSP00000452582.2:p.Lys61Arg
ENST00000556028.5:c.*166A>G	ENSP00000452311.1:n.*166A>G
ENST00000556668.1:n.398A>G
NM_014239.3:c.818A>G	NP_055054.1:p.Lys273Arg
NM_014239.4:c.818A>G MANE Select	NP_055054.1:p.Lys273Arg