Canonical Allele Identifier: CA7275000
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs773516947
ExAC: 14:75472527 C / A
gnomAD v2: 14-75472527-C-A
gnomAD v3: 14-75005824-C-A
gnomAD v4: 14-75005824-C-A
MyVariant Identifiers: chr14:g.75472527C>A (hg19) chr14:g.75005824C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005824C>A , CM000676.2:g.75005824C>A GRCh38
NC_000014.8:g.75472527C>A , CM000676.1:g.75472527C>A GRCh37
NC_000014.7:g.74542280C>A NCBI36
NG_013333.1:g.7916C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-42C>A MANE Select ENSP00000266126.5:n.598-42C>A
ENST00000266126.9:c.598-42C>A ENSP00000266126.5:n.598-42C>A
ENST00000553401.5:c.571-17C>A ENSP00000451681.1:n.571-17C>A
ENST00000556028.5:c.598-73C>A ENSP00000452311.1:n.598-73C>A
NM_014239.3:c.598-42C>A NP_055054.1:n.598-42C>A
NM_014239.4:c.598-42C>A MANE Select NP_055054.1:n.598-42C>A
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