Canonical Allele Identifier: CA390426561
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005911-A-C
MyVariant Identifiers: chr14:g.75472614A>C (hg19) chr14:g.75005911A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005911A>C , CM000676.2:g.75005911A>C GRCh38
NC_000014.8:g.75472614A>C , CM000676.1:g.75472614A>C GRCh37
NC_000014.7:g.74542367A>C NCBI36
NG_013333.1:g.8003A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.643A>C MANE Select ENSP00000266126.5:p.Thr215Pro
ENST00000266126.9:c.643A>C ENSP00000266126.5:p.Thr215Pro
ENST00000553401.5:c.641A>C ENSP00000451681.1:n.641A>C
ENST00000554748.2:c.7A>C ENSP00000452582.2:p.Thr3Pro
ENST00000556028.5:c.612A>C ENSP00000452311.1:p.Gln204His
NM_014239.3:c.643A>C NP_055054.1:p.Thr215Pro
NM_014239.4:c.643A>C MANE Select NP_055054.1:p.Thr215Pro
Search 100 bp 5'
Search 100 bp 3'