Canonical Allele Identifier: CA390426598
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75472622G>A (hg19) chr14:g.75005919G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005919G>A , CM000676.2:g.75005919G>A GRCh38
NC_000014.8:g.75472622G>A , CM000676.1:g.75472622G>A GRCh37
NC_000014.7:g.74542375G>A NCBI36
NG_013333.1:g.8011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.651G>A MANE Select ENSP00000266126.5:p.Met217Ile
ENST00000266126.9:c.651G>A ENSP00000266126.5:p.Met217Ile
ENST00000553401.5:c.649G>A ENSP00000451681.1:n.649G>A
ENST00000554748.2:c.15G>A ENSP00000452582.2:p.Met5Ile
ENST00000556028.5:c.620G>A ENSP00000452311.1:p.Ter207=
NM_014239.3:c.651G>A NP_055054.1:p.Met217Ile
NM_014239.4:c.651G>A MANE Select NP_055054.1:p.Met217Ile
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