Canonical Allele Identifier: CA7275104

Gene: EIF2B2

Linked Data

• dbSNP Id: rs780910747
• ExAC: 14:75475696 C / A
• gnomAD v2: 14-75475696-C-A
• gnomAD v4: 14-75008993-C-A
• MyVariant Identifiers: chr14:g.75475696C>A (hg19) ; chr14:g.75008993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75008993C>A , CM000676.2:g.75008993C>A	GRCh38
NC_000014.8:g.75475696C>A , CM000676.1:g.75475696C>A	GRCh37
NC_000014.7:g.74545449C>A	NCBI36
NG_013333.1:g.11085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.899-38C>A MANE Select	ENSP00000266126.5:n.899-38C>A
ENST00000266126.9:c.899-38C>A	ENSP00000266126.5:n.899-38C>A
ENST00000556668.1:n.479-38C>A
NM_014239.3:c.899-38C>A	NP_055054.1:n.899-38C>A
NM_014239.4:c.899-38C>A MANE Select	NP_055054.1:n.899-38C>A