Canonical Allele Identifier: CA2621687144

Gene: EIF2B1

Linked Data

• gnomAD v4: 12-123630300-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630300G>A , CM000674.2:g.123630300G>A	GRCh38
NC_000012.11:g.124114847G>A , CM000674.1:g.124114847G>A	GRCh37
NC_000012.10:g.122680800G>A	NCBI36
NG_015862.1:g.8477C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.253-15C>T MANE Select	ENSP00000416250.2:n.253-15C>T
ENST00000424014.6:c.253-15C>T	ENSP00000416250.2:n.253-15C>T
ENST00000452159.6:n.384-15C>T
ENST00000534960.5:c.300-15C>T
ENST00000537073.1:c.253-15C>T	ENSP00000444183.1:n.253-15C>T
ENST00000539951.5:c.214-15C>T	ENSP00000438060.1:n.214-15C>T
ENST00000543940.1:n.357C>T
NM_001414.3:c.253-15C>T	NP_001405.1:n.253-15C>T
NM_001414.4:c.253-15C>T MANE Select	NP_001405.1:n.253-15C>T