Canonical Allele Identifier: CA2625720953
Gene: EIF2B2 HGNC NCBI

Linked Data

gnomAD v4: 14-75005860-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005860T>G , CM000676.2:g.75005860T>G GRCh38
NC_000014.8:g.75472563T>G , CM000676.1:g.75472563T>G GRCh37
NC_000014.7:g.74542316T>G NCBI36
NG_013333.1:g.7952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-6T>G MANE Select ENSP00000266126.5:n.598-6T>G
ENST00000266126.9:c.598-6T>G ENSP00000266126.5:n.598-6T>G
ENST00000553401.5:c.590T>G ENSP00000451681.1:p.Ile197Ser
ENST00000556028.5:c.598-37T>G ENSP00000452311.1:n.598-37T>G
NM_014239.3:c.598-6T>G NP_055054.1:n.598-6T>G
NM_014239.4:c.598-6T>G MANE Select NP_055054.1:n.598-6T>G
Search 100 bp 5'
Search 100 bp 3'