Canonical Allele Identifier: CA708574497
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1244102754
MyVariant Identifiers: chr14:g.75472845del (hg19) chr14:g.75006142del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006143del , CM000676.2:g.75006143del GRCh38
NC_000014.8:g.75472846del , CM000676.1:g.75472846del GRCh37
NC_000014.7:g.74542599del NCBI36
NG_013333.1:g.8235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+182del MANE Select ENSP00000266126.5:n.693+182del
ENST00000266126.9:c.693+182del ENSP00000266126.5:n.693+182del
ENST00000553401.5:c.691+182del ENSP00000451681.1:n.691+182del
ENST00000554748.2:c.57+182del ENSP00000452582.2:n.57+182del
ENST00000556028.5:c.*41+182del ENSP00000452311.1:n.*41+182del
NM_014239.3:c.693+182del NP_055054.1:n.693+182del
NM_014239.4:c.693+182del MANE Select NP_055054.1:n.693+182del
Search 100 bp 5'
Search 100 bp 3'