Canonical Allele Identifier: CA2621687141
Gene: EIF2B1 HGNC NCBI

Linked Data

gnomAD v4: 12-123630298-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630298G>A , CM000674.2:g.123630298G>A GRCh38
NC_000012.11:g.124114845G>A , CM000674.1:g.124114845G>A GRCh37
NC_000012.10:g.122680798G>A NCBI36
NG_015862.1:g.8479C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-13C>T MANE Select ENSP00000416250.2:n.253-13C>T
ENST00000424014.6:c.253-13C>T ENSP00000416250.2:n.253-13C>T
ENST00000452159.6:n.384-13C>T
ENST00000534960.5:c.300-13C>T
ENST00000537073.1:c.253-13C>T ENSP00000444183.1:n.253-13C>T
ENST00000539951.5:c.214-13C>T ENSP00000438060.1:n.214-13C>T
ENST00000543940.1:n.359C>T
NM_001414.3:c.253-13C>T NP_001405.1:n.253-13C>T
NM_001414.4:c.253-13C>T MANE Select NP_001405.1:n.253-13C>T
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