Canonical Allele Identifier: CA2621687216
Gene: EIF2B1 HGNC NCBI

Linked Data

gnomAD v4: 12-123630346-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630346G>A , CM000674.2:g.123630346G>A GRCh38
NC_000012.11:g.124114893G>A , CM000674.1:g.124114893G>A GRCh37
NC_000012.10:g.122680846G>A NCBI36
NG_015862.1:g.8431C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.252+51C>T MANE Select ENSP00000416250.2:n.252+51C>T
ENST00000424014.6:c.252+51C>T ENSP00000416250.2:n.252+51C>T
ENST00000452159.6:n.383+51C>T
ENST00000534960.5:c.299+51C>T
ENST00000537073.1:c.252+51C>T ENSP00000444183.1:n.252+51C>T
ENST00000539951.5:c.213+51C>T ENSP00000438060.1:n.213+51C>T
ENST00000543940.1:n.353-42C>T
NM_001414.3:c.252+51C>T NP_001405.1:n.252+51C>T
NM_001414.4:c.252+51C>T MANE Select NP_001405.1:n.252+51C>T
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