Canonical Allele Identifier: CA2621687177

Gene: EIF2B1

Linked Data

• gnomAD v4: 12-123630321-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630321G>C , CM000674.2:g.123630321G>C	GRCh38
NC_000012.11:g.124114868G>C , CM000674.1:g.124114868G>C	GRCh37
NC_000012.10:g.122680821G>C	NCBI36
NG_015862.1:g.8456C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.253-36C>G MANE Select	ENSP00000416250.2:n.253-36C>G
ENST00000424014.6:c.253-36C>G	ENSP00000416250.2:n.253-36C>G
ENST00000452159.6:n.384-36C>G
ENST00000534960.5:c.300-36C>G
ENST00000537073.1:c.253-36C>G	ENSP00000444183.1:n.253-36C>G
ENST00000539951.5:c.214-36C>G	ENSP00000438060.1:n.214-36C>G
ENST00000543940.1:n.353-17C>G
NM_001414.3:c.253-36C>G	NP_001405.1:n.253-36C>G
NM_001414.4:c.253-36C>G MANE Select	NP_001405.1:n.253-36C>G