Canonical Allele Identifier: CA2147299427
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1889618551
gnomAD v4: 14-75005819-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005819T>C , CM000676.2:g.75005819T>C GRCh38
NC_000014.8:g.75472522T>C , CM000676.1:g.75472522T>C GRCh37
NC_000014.7:g.74542275T>C NCBI36
NG_013333.1:g.7911T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-47T>C MANE Select ENSP00000266126.5:n.598-47T>C
ENST00000266126.9:c.598-47T>C ENSP00000266126.5:n.598-47T>C
ENST00000553401.5:c.571-22T>C ENSP00000451681.1:n.571-22T>C
ENST00000556028.5:c.598-78T>C ENSP00000452311.1:n.598-78T>C
NM_014239.3:c.598-47T>C NP_055054.1:n.598-47T>C
NM_014239.4:c.598-47T>C MANE Select NP_055054.1:n.598-47T>C
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