Canonical Allele Identifier: CA2625712352
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75003251-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003252dup , CM000676.2:g.75003252dup GRCh38
NC_000014.8:g.75469955dup , CM000676.1:g.75469955dup GRCh37
NC_000014.7:g.74539708dup NCBI36
NG_013333.1:g.5344dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.164-23dup MANE Select ENSP00000266126.5:n.164-23dup
ENST00000266126.9:c.164-23dup ENSP00000266126.5:n.164-23dup
ENST00000553401.5:c.137-23dup ENSP00000451681.1:n.137-23dup
ENST00000553539.1:n.281dup
ENST00000555522.1:n.222-23dup
ENST00000556028.5:c.164-23dup ENSP00000452311.1:n.164-23dup
NM_014239.3:c.164-23dup NP_055054.1:n.164-23dup
NM_014239.4:c.164-23dup MANE Select NP_055054.1:n.164-23dup
Search 100 bp 5'
Search 100 bp 3'