Canonical Allele Identifier: CA487272835
Gene: EIF2B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75469985G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003282G>C , CM000676.2:g.75003282G>C GRCh38
NC_000014.8:g.75469985G>C , CM000676.1:g.75469985G>C GRCh37
NC_000014.7:g.74539738G>C NCBI36
NG_013333.1:g.5374G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.171G>C MANE Select ENSP00000266126.5:p.Leu57=
ENST00000266126.9:c.171G>C ENSP00000266126.5:p.Leu57=
ENST00000553401.5:c.144G>C ENSP00000451681.1:p.Leu48=
ENST00000553539.1:n.311G>C
ENST00000555522.1:n.229G>C
ENST00000556028.5:c.171G>C ENSP00000452311.1:p.Leu57=
NM_014239.3:c.171G>C NP_055054.1:p.Leu57=
NM_014239.4:c.171G>C MANE Select NP_055054.1:p.Leu57=
Search 100 bp 5'
Search 100 bp 3'