Canonical Allele Identifier: CA964782042
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1889572645
gnomAD v3: 14-75003504-T-TGACC
gnomAD v4: 14-75003504-T-TGACC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003505_75003508dup , CM000676.2:g.75003505_75003508dup GRCh38
NC_000014.8:g.75470208_75470211dup , CM000676.1:g.75470208_75470211dup GRCh37
NC_000014.7:g.74539961_74539964dup NCBI36
NG_013333.1:g.5597_5600dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-46_285-43dup MANE Select ENSP00000266126.5:n.285-46_285-43dup
ENST00000266126.9:c.285-46_285-43dup ENSP00000266126.5:n.285-46_285-43dup
ENST00000553401.5:c.258-46_258-43dup ENSP00000451681.1:n.258-46_258-43dup
ENST00000553539.1:n.534_537dup
ENST00000555522.1:n.343-46_343-43dup
ENST00000556028.5:c.285-46_285-43dup ENSP00000452311.1:n.285-46_285-43dup
NM_014239.3:c.285-46_285-43dup NP_055054.1:n.285-46_285-43dup
NM_014239.4:c.285-46_285-43dup MANE Select NP_055054.1:n.285-46_285-43dup
Search 100 bp 5'
Search 100 bp 3'