Canonical Allele Identifier: CA2575756723
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006054T>G , CM000676.2:g.75006054T>G GRCh38
NC_000014.8:g.75472757T>G , CM000676.1:g.75472757T>G GRCh37
NC_000014.7:g.74542510T>G NCBI36
NG_013333.1:g.8146T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+93T>G MANE Select ENSP00000266126.5:n.693+93T>G
ENST00000266126.9:c.693+93T>G ENSP00000266126.5:n.693+93T>G
ENST00000553401.5:c.691+93T>G ENSP00000451681.1:n.691+93T>G
ENST00000554748.2:c.57+93T>G ENSP00000452582.2:n.57+93T>G
ENST00000556028.5:c.*41+93T>G ENSP00000452311.1:n.*41+93T>G
NM_014239.3:c.693+93T>G NP_055054.1:n.693+93T>G
NM_014239.4:c.693+93T>G MANE Select NP_055054.1:n.693+93T>G