Canonical Allele Identifier: CA615058906
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1391953270
gnomAD v2: 14-75472539-C-G
gnomAD v3: 14-75005836-C-G
gnomAD v4: 14-75005836-C-G
MyVariant Identifiers: chr14:g.75472539C>G (hg19) chr14:g.75005836C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005836C>G , CM000676.2:g.75005836C>G GRCh38
NC_000014.8:g.75472539C>G , CM000676.1:g.75472539C>G GRCh37
NC_000014.7:g.74542292C>G NCBI36
NG_013333.1:g.7928C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-30C>G MANE Select ENSP00000266126.5:n.598-30C>G
ENST00000266126.9:c.598-30C>G ENSP00000266126.5:n.598-30C>G
ENST00000553401.5:c.571-5C>G ENSP00000451681.1:n.571-5C>G
ENST00000556028.5:c.598-61C>G ENSP00000452311.1:n.598-61C>G
NM_014239.3:c.598-30C>G NP_055054.1:n.598-30C>G
NM_014239.4:c.598-30C>G MANE Select NP_055054.1:n.598-30C>G
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