Canonical Allele Identifier: CA487177211
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75472571T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005868T>A , CM000676.2:g.75005868T>A GRCh38
NC_000014.8:g.75472571T>A , CM000676.1:g.75472571T>A GRCh37
NC_000014.7:g.74542324T>A NCBI36
NG_013333.1:g.7960T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.600T>A MANE Select ENSP00000266126.5:p.Gly200=
ENST00000266126.9:c.600T>A ENSP00000266126.5:p.Gly200=
ENST00000553401.5:c.598T>A ENSP00000451681.1:p.Ser200Thr
ENST00000556028.5:c.598-29T>A ENSP00000452311.1:n.598-29T>A
NM_014239.3:c.600T>A NP_055054.1:p.Gly200=
NM_014239.4:c.600T>A MANE Select NP_055054.1:p.Gly200=
Search 100 bp 5'
Search 100 bp 3'