Canonical Allele Identifier: CA2147299498
Gene: EIF2B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006012_75006016delinsTATTG , CM000676.2:g.75006012_75006016delinsTATTG GRCh38
NC_000014.8:g.75472715_75472719delinsTATTG , CM000676.1:g.75472715_75472719delinsTATTG GRCh37
NC_000014.7:g.74542468_74542472delinsTATTG NCBI36
NG_013333.1:g.8104_8108delinsTATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+51_693+55delinsTATTG MANE Select ENSP00000266126.5:n.693+51_693+55delinsTATTG
ENST00000266126.9:c.693+51_693+55delinsTATTG ENSP00000266126.5:n.693+51_693+55delinsTATTG
ENST00000553401.5:c.691+51_691+55delinsTATTG ENSP00000451681.1:n.691+51_691+55delinsTATTG
ENST00000554748.2:c.57+51_57+55delinsTATTG ENSP00000452582.2:n.57+51_57+55delinsTATTG
ENST00000556028.5:c.*41+51_*41+55delinsTATTG ENSP00000452311.1:n.*41+51_*41+55delinsTATTG
NM_014239.3:c.693+51_693+55delinsTATTG NP_055054.1:n.693+51_693+55delinsTATTG
NM_014239.4:c.693+51_693+55delinsTATTG MANE Select NP_055054.1:n.693+51_693+55delinsTATTG