Canonical Allele Identifier: CA615058943
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1266432129
gnomAD v2: 14-75472701-T-A
gnomAD v3: 14-75005998-T-A
gnomAD v4: 14-75005998-T-A
MyVariant Identifiers: chr14:g.75472701T>A (hg19) chr14:g.75005998T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005998T>A , CM000676.2:g.75005998T>A GRCh38
NC_000014.8:g.75472701T>A , CM000676.1:g.75472701T>A GRCh37
NC_000014.7:g.74542454T>A NCBI36
NG_013333.1:g.8090T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+37T>A MANE Select ENSP00000266126.5:n.693+37T>A
ENST00000266126.9:c.693+37T>A ENSP00000266126.5:n.693+37T>A
ENST00000553401.5:c.691+37T>A ENSP00000451681.1:n.691+37T>A
ENST00000554748.2:c.57+37T>A ENSP00000452582.2:n.57+37T>A
ENST00000556028.5:c.*41+37T>A ENSP00000452311.1:n.*41+37T>A
NM_014239.3:c.693+37T>A NP_055054.1:n.693+37T>A
NM_014239.4:c.693+37T>A MANE Select NP_055054.1:n.693+37T>A
Search 100 bp 5'
Search 100 bp 3'