Canonical Allele Identifier: CA2625720850
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005823-TCTCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005827_75005830del , CM000676.2:g.75005827_75005830del GRCh38
NC_000014.8:g.75472530_75472533del , CM000676.1:g.75472530_75472533del GRCh37
NC_000014.7:g.74542283_74542286del NCBI36
NG_013333.1:g.7919_7922del

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-39_598-36del MANE Select ENSP00000266126.5:n.598-39_598-36del
ENST00000266126.9:c.598-39_598-36del ENSP00000266126.5:n.598-39_598-36del
ENST00000553401.5:c.571-14_571-11del ENSP00000451681.1:n.571-14_571-11del
ENST00000556028.5:c.598-70_598-67del ENSP00000452311.1:n.598-70_598-67del
NM_014239.3:c.598-39_598-36del NP_055054.1:n.598-39_598-36del
NM_014239.4:c.598-39_598-36del MANE Select NP_055054.1:n.598-39_598-36del
Search 100 bp 5'
Search 100 bp 3'