Canonical Allele Identifier: CA7274853
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs768864027
ExAC: 14:75470223 CCT / C
gnomAD v2: 14-75470223-CCT-C
gnomAD v4: 14-75003520-CCT-C
MyVariant Identifiers: chr14:g.75470226_75470227del (hg19) chr14:g.75470224_75470225del (hg19) chr14:g.75003521_75003522del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003527_75003528del , CM000676.2:g.75003527_75003528del GRCh38
NC_000014.8:g.75470230_75470231del , CM000676.1:g.75470230_75470231del GRCh37
NC_000014.7:g.74539983_74539984del NCBI36
NG_013333.1:g.5619_5620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-24_285-23del MANE Select ENSP00000266126.5:n.285-24_285-23del
ENST00000266126.9:c.285-24_285-23del ENSP00000266126.5:n.285-24_285-23del
ENST00000553401.5:c.258-24_258-23del ENSP00000451681.1:n.258-24_258-23del
ENST00000553539.1:n.556_557del
ENST00000555522.1:n.343-24_343-23del
ENST00000556028.5:c.285-24_285-23del ENSP00000452311.1:n.285-24_285-23del
NM_014239.3:c.285-24_285-23del NP_055054.1:n.285-24_285-23del
NM_014239.4:c.285-24_285-23del MANE Select NP_055054.1:n.285-24_285-23del
Search 100 bp 5'
Search 100 bp 3'