Canonical Allele Identifier: CA390426380
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005869-C-T
MyVariant Identifiers: chr14:g.75472572C>T (hg19) chr14:g.75005869C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005869C>T , CM000676.2:g.75005869C>T GRCh38
NC_000014.8:g.75472572C>T , CM000676.1:g.75472572C>T GRCh37
NC_000014.7:g.74542325C>T NCBI36
NG_013333.1:g.7961C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.601C>T MANE Select ENSP00000266126.5:p.His201Tyr
ENST00000266126.9:c.601C>T ENSP00000266126.5:p.His201Tyr
ENST00000553401.5:c.599C>T ENSP00000451681.1:p.Ser200Leu
ENST00000556028.5:c.598-28C>T ENSP00000452311.1:n.598-28C>T
NM_014239.3:c.601C>T NP_055054.1:p.His201Tyr
NM_014239.4:c.601C>T MANE Select NP_055054.1:p.His201Tyr
Search 100 bp 5'
Search 100 bp 3'