Canonical Allele Identifier: CA390424226
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75470255C>A (hg19) chr14:g.75003552C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003552C>A , CM000676.2:g.75003552C>A GRCh38
NC_000014.8:g.75470255C>A , CM000676.1:g.75470255C>A GRCh37
NC_000014.7:g.74540008C>A NCBI36
NG_013333.1:g.5644C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.286C>A MANE Select ENSP00000266126.5:p.Leu96Ile
ENST00000266126.9:c.286C>A ENSP00000266126.5:p.Leu96Ile
ENST00000553401.5:c.259C>A ENSP00000451681.1:p.Leu87Ile
ENST00000553539.1:n.581C>A
ENST00000555522.1:n.344C>A
ENST00000556028.5:c.286C>A ENSP00000452311.1:p.Leu96Ile
NM_014239.3:c.286C>A NP_055054.1:p.Leu96Ile
NM_014239.4:c.286C>A MANE Select NP_055054.1:p.Leu96Ile
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Search 100 bp 3'