Canonical Allele Identifier: CA116772
Gene: EIF2B2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.75004815C>T
GRCh37 chr14:g.75471518C>T
Revel Score:
ENST00000266126 (MANE Select) 0.950
gnomAD v2:
14:75471518 C / T
gnomAD v3:
14:75004815 C / T
gnomAD v4:
chr14-75004815-C-T
Joint Max Group AF 0.00001031 (NFE)
Genomes Max Group AF 0.00001176 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV003221402
ClinVar Variation:
4339
dbSNP:
104894428
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75004815C>T , CM000676.2:g.75004815C>T GRCh38
NC_000014.8:g.75471518C>T , CM000676.1:g.75471518C>T GRCh37
NC_000014.7:g.74541271C>T NCBI36
NG_013333.1:g.6907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.512C>T MANE Select ENSP00000266126.5:p.Ser171Phe
ENST00000266126.9:c.512C>T ENSP00000266126.5:p.Ser171Phe
ENST00000553401.5:c.485C>T ENSP00000451681.1:p.Ser162Phe
ENST00000553539.1:n.807C>T
ENST00000555522.1:n.570C>T
ENST00000556028.5:c.512C>T ENSP00000452311.1:p.Ser171Phe
NM_014239.3:c.512C>T NP_055054.1:p.Ser171Phe
NM_014239.4:c.512C>T MANE Select NP_055054.1:p.Ser171Phe
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