Canonical Allele Identifier: CA2621687147
Gene: EIF2B1 HGNC NCBI

Linked Data

gnomAD v4: 12-123630306-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630306T>G , CM000674.2:g.123630306T>G GRCh38
NC_000012.11:g.124114853T>G , CM000674.1:g.124114853T>G GRCh37
NC_000012.10:g.122680806T>G NCBI36
NG_015862.1:g.8471A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-21A>C MANE Select ENSP00000416250.2:n.253-21A>C
ENST00000424014.6:c.253-21A>C ENSP00000416250.2:n.253-21A>C
ENST00000452159.6:n.384-21A>C
ENST00000534960.5:c.300-21A>C
ENST00000537073.1:c.253-21A>C ENSP00000444183.1:n.253-21A>C
ENST00000539951.5:c.214-21A>C ENSP00000438060.1:n.214-21A>C
ENST00000543940.1:n.353-2A>C
NM_001414.3:c.253-21A>C NP_001405.1:n.253-21A>C
NM_001414.4:c.253-21A>C MANE Select NP_001405.1:n.253-21A>C
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