Canonical Allele Identifier: CA7275109
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs762563184
ExAC: 14:75475745 GAGA / G
gnomAD v2: 14-75475745-GAGA-G
gnomAD v3: 14-75009042-GAGA-G
gnomAD v4: 14-75009042-GAGA-G
MyVariant Identifiers: chr14:g.75475746_75475748del (hg19) chr14:g.75009043_75009045del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009045_75009047del , CM000676.2:g.75009045_75009047del GRCh38
NC_000014.8:g.75475748_75475750del , CM000676.1:g.75475748_75475750del GRCh37
NC_000014.7:g.74545501_74545503del NCBI36
NG_013333.1:g.11137_11139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.913_915del MANE Select ENSP00000266126.5:p.Lys305del
ENST00000266126.9:c.913_915del ENSP00000266126.5:p.Lys305del
ENST00000556668.1:n.493_495del
NM_014239.3:c.913_915del NP_055054.1:p.Lys305del
NM_014239.4:c.913_915del MANE Select NP_055054.1:p.Lys305del
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Search 100 bp 3'