Canonical Allele Identifier: CA263655059
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs188519745
gnomAD v2: 14-75472740-T-C
gnomAD v3: 14-75006037-T-C
gnomAD v4: 14-75006037-T-C
MyVariant Identifiers: chr14:g.75472740T>C (hg19) chr14:g.75006037T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75006037T>C , CM000676.2:g.75006037T>C GRCh38
NC_000014.8:g.75472740T>C , CM000676.1:g.75472740T>C GRCh37
NC_000014.7:g.74542493T>C NCBI36
NG_013333.1:g.8129T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.693+76T>C MANE Select ENSP00000266126.5:n.693+76T>C
ENST00000266126.9:c.693+76T>C ENSP00000266126.5:n.693+76T>C
ENST00000553401.5:c.691+76T>C ENSP00000451681.1:n.691+76T>C
ENST00000554748.2:c.57+76T>C ENSP00000452582.2:n.57+76T>C
ENST00000556028.5:c.*41+76T>C ENSP00000452311.1:n.*41+76T>C
NM_014239.3:c.693+76T>C NP_055054.1:n.693+76T>C
NM_014239.4:c.693+76T>C MANE Select NP_055054.1:n.693+76T>C
Search 100 bp 5'
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