Canonical Allele Identifier: CA390426906
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75472664G>C (hg19) chr14:g.75005961G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005961G>C , CM000676.2:g.75005961G>C GRCh38
NC_000014.8:g.75472664G>C , CM000676.1:g.75472664G>C GRCh37
NC_000014.7:g.74542417G>C NCBI36
NG_013333.1:g.8053G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693G>C MANE Select ENSP00000266126.5:p.Lys231Asn
ENST00000266126.9:c.693G>C ENSP00000266126.5:p.Lys231Asn
ENST00000553401.5:c.691G>C ENSP00000451681.1:n.691G>C
ENST00000554748.2:c.57G>C ENSP00000452582.2:p.Lys19Asn
ENST00000556028.5:c.*41G>C ENSP00000452311.1:n.*41G>C
NM_014239.3:c.693G>C NP_055054.1:p.Lys231Asn
NM_014239.4:c.693G>C MANE Select NP_055054.1:p.Lys231Asn
Search 100 bp 5'
Search 100 bp 3'