Canonical Allele Identifier: CA390430048
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1411085294
gnomAD v2: 14-75475750-G-T
gnomAD v4: 14-75009047-G-T
MyVariant Identifiers: chr14:g.75475750G>T (hg19) chr14:g.75009047G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009047G>T , CM000676.2:g.75009047G>T GRCh38
NC_000014.8:g.75475750G>T , CM000676.1:g.75475750G>T GRCh37
NC_000014.7:g.74545503G>T NCBI36
NG_013333.1:g.11139G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.915G>T MANE Select ENSP00000266126.5:p.Lys305Asn
ENST00000266126.9:c.915G>T ENSP00000266126.5:p.Lys305Asn
ENST00000556668.1:n.495G>T
NM_014239.3:c.915G>T NP_055054.1:p.Lys305Asn
NM_014239.4:c.915G>T MANE Select NP_055054.1:p.Lys305Asn
Search 100 bp 5'
Search 100 bp 3'