Canonical Allele Identifier: CA2625721285
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75006046-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006046T>G , CM000676.2:g.75006046T>G GRCh38
NC_000014.8:g.75472749T>G , CM000676.1:g.75472749T>G GRCh37
NC_000014.7:g.74542502T>G NCBI36
NG_013333.1:g.8138T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+85T>G MANE Select ENSP00000266126.5:n.693+85T>G
ENST00000266126.9:c.693+85T>G ENSP00000266126.5:n.693+85T>G
ENST00000553401.5:c.691+85T>G ENSP00000451681.1:n.691+85T>G
ENST00000554748.2:c.57+85T>G ENSP00000452582.2:n.57+85T>G
ENST00000556028.5:c.*41+85T>G ENSP00000452311.1:n.*41+85T>G
NM_014239.3:c.693+85T>G NP_055054.1:n.693+85T>G
NM_014239.4:c.693+85T>G MANE Select NP_055054.1:n.693+85T>G
Search 100 bp 5'
Search 100 bp 3'