Canonical Allele Identifier: CA7274858
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs762604029
ExAC: 14:75470246 C / T
gnomAD v2: 14-75470246-C-T
gnomAD v4: 14-75003543-C-T
MyVariant Identifiers: chr14:g.75470246C>T (hg19) chr14:g.75003543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003543C>T , CM000676.2:g.75003543C>T GRCh38
NC_000014.8:g.75470246C>T , CM000676.1:g.75470246C>T GRCh37
NC_000014.7:g.74539999C>T NCBI36
NG_013333.1:g.5635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-8C>T MANE Select ENSP00000266126.5:n.285-8C>T
ENST00000266126.9:c.285-8C>T ENSP00000266126.5:n.285-8C>T
ENST00000553401.5:c.258-8C>T ENSP00000451681.1:n.258-8C>T
ENST00000553539.1:n.572C>T
ENST00000555522.1:n.343-8C>T
ENST00000556028.5:c.285-8C>T ENSP00000452311.1:n.285-8C>T
NM_014239.3:c.285-8C>T NP_055054.1:n.285-8C>T
NM_014239.4:c.285-8C>T MANE Select NP_055054.1:n.285-8C>T
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