Canonical Allele Identifier: CA487178823
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75475753C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009050C>T , CM000676.2:g.75009050C>T GRCh38
NC_000014.8:g.75475753C>T , CM000676.1:g.75475753C>T GRCh37
NC_000014.7:g.74545506C>T NCBI36
NG_013333.1:g.11142C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.918C>T MANE Select ENSP00000266126.5:p.Val306=
ENST00000266126.9:c.918C>T ENSP00000266126.5:p.Val306=
ENST00000556668.1:n.498C>T
NM_014239.3:c.918C>T NP_055054.1:p.Val306=
NM_014239.4:c.918C>T MANE Select NP_055054.1:p.Val306=
Search 100 bp 5'
Search 100 bp 3'