Canonical Allele Identifier: CA390424131
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1889570727
gnomAD v3: 14-75003380-G-A
gnomAD v4: 14-75003380-G-A
MyVariant Identifiers: chr14:g.75470083G>A (hg19) chr14:g.75003380G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003380G>A , CM000676.2:g.75003380G>A GRCh38
NC_000014.8:g.75470083G>A , CM000676.1:g.75470083G>A GRCh37
NC_000014.7:g.74539836G>A NCBI36
NG_013333.1:g.5472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.269G>A MANE Select ENSP00000266126.5:p.Arg90Gln
ENST00000266126.9:c.269G>A ENSP00000266126.5:p.Arg90Gln
ENST00000553401.5:c.242G>A ENSP00000451681.1:p.Arg81Gln
ENST00000553539.1:n.409G>A
ENST00000555522.1:n.327G>A
ENST00000556028.5:c.269G>A ENSP00000452311.1:p.Arg90Gln
NM_014239.3:c.269G>A NP_055054.1:p.Arg90Gln
NM_014239.4:c.269G>A MANE Select NP_055054.1:p.Arg90Gln
Search 100 bp 5'
Search 100 bp 3'