Canonical Allele Identifier: CA7275092
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs774575817
ExAC: 14:75474477 T / C
MyVariant Identifiers: chr14:g.75474477T>C (hg19) chr14:g.75007774T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75007774T>C , CM000676.2:g.75007774T>C GRCh38
NC_000014.8:g.75474477T>C , CM000676.1:g.75474477T>C GRCh37
NC_000014.7:g.74544230T>C NCBI36
NG_013333.1:g.9866T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.884T>C MANE Select ENSP00000266126.5:p.Leu295Pro
ENST00000266126.9:c.884T>C ENSP00000266126.5:p.Leu295Pro
ENST00000553401.5:c.882T>C ENSP00000451681.1:n.882T>C
ENST00000556668.1:n.464T>C
NM_014239.3:c.884T>C NP_055054.1:p.Leu295Pro
NM_014239.4:c.884T>C MANE Select NP_055054.1:p.Leu295Pro
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