Canonical Allele Identifier: CA390423811
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75469984T>G (hg19) chr14:g.75003281T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003281T>G , CM000676.2:g.75003281T>G GRCh38
NC_000014.8:g.75469984T>G , CM000676.1:g.75469984T>G GRCh37
NC_000014.7:g.74539737T>G NCBI36
NG_013333.1:g.5373T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.170T>G MANE Select ENSP00000266126.5:p.Leu57Arg
ENST00000266126.9:c.170T>G ENSP00000266126.5:p.Leu57Arg
ENST00000553401.5:c.143T>G ENSP00000451681.1:p.Leu48Arg
ENST00000553539.1:n.310T>G
ENST00000555522.1:n.228T>G
ENST00000556028.5:c.170T>G ENSP00000452311.1:p.Leu57Arg
NM_014239.3:c.170T>G NP_055054.1:p.Leu57Arg
NM_014239.4:c.170T>G MANE Select NP_055054.1:p.Leu57Arg
Search 100 bp 5'
Search 100 bp 3'