Canonical Allele Identifier: CA2740097130
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2999309
ClinVar RCV Id: RCV003851940
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009011C>T , CM000676.2:g.75009011C>T GRCh38
NC_000014.8:g.75475714C>T , CM000676.1:g.75475714C>T GRCh37
NC_000014.7:g.74545467C>T NCBI36
NG_013333.1:g.11103C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.899-20C>T MANE Select ENSP00000266126.5:n.899-20C>T
ENST00000266126.9:c.899-20C>T ENSP00000266126.5:n.899-20C>T
ENST00000556668.1:n.479-20C>T
NM_014239.3:c.899-20C>T NP_055054.1:n.899-20C>T
NM_014239.4:c.899-20C>T MANE Select NP_055054.1:n.899-20C>T
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