Canonical Allele Identifier: CA7274992
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs750640319
ExAC: 14:75472495 C / G
gnomAD v2: 14-75472495-C-G
gnomAD v4: 14-75005792-C-G
MyVariant Identifiers: chr14:g.75472495C>G (hg19) chr14:g.75005792C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005792C>G , CM000676.2:g.75005792C>G GRCh38
NC_000014.8:g.75472495C>G , CM000676.1:g.75472495C>G GRCh37
NC_000014.7:g.74542248C>G NCBI36
NG_013333.1:g.7884C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-74C>G MANE Select ENSP00000266126.5:n.598-74C>G
ENST00000266126.9:c.598-74C>G ENSP00000266126.5:n.598-74C>G
ENST00000553401.5:c.571-49C>G ENSP00000451681.1:n.571-49C>G
ENST00000556028.5:c.598-105C>G ENSP00000452311.1:n.598-105C>G
NM_014239.3:c.598-74C>G NP_055054.1:n.598-74C>G
NM_014239.4:c.598-74C>G MANE Select NP_055054.1:n.598-74C>G
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