Canonical Allele Identifier: CA7274860
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs762068601
ExAC: 14:75470250 A / G
gnomAD v2: 14-75470250-A-G
gnomAD v3: 14-75003547-A-G
gnomAD v4: 14-75003547-A-G
MyVariant Identifiers: chr14:g.75470250A>G (hg19) chr14:g.75003547A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75003547A>G , CM000676.2:g.75003547A>G GRCh38
NC_000014.8:g.75470250A>G , CM000676.1:g.75470250A>G GRCh37
NC_000014.7:g.74540003A>G NCBI36
NG_013333.1:g.5639A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.285-4A>G MANE Select ENSP00000266126.5:n.285-4A>G
ENST00000266126.9:c.285-4A>G ENSP00000266126.5:n.285-4A>G
ENST00000553401.5:c.258-4A>G ENSP00000451681.1:n.258-4A>G
ENST00000553539.1:n.576A>G
ENST00000555522.1:n.343-4A>G
ENST00000556028.5:c.285-4A>G ENSP00000452311.1:n.285-4A>G
NM_014239.3:c.285-4A>G NP_055054.1:n.285-4A>G
NM_014239.4:c.285-4A>G MANE Select NP_055054.1:n.285-4A>G
Search 100 bp 5'
Search 100 bp 3'