Canonical Allele Identifier: CA7275005
Gene: EIF2B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1639645
ClinVar RCV Id: RCV002129199
dbSNP Id: rs183965607
ExAC: 14:75472551 C / T
gnomAD v2: 14-75472551-C-T
gnomAD v3: 14-75005848-C-T
gnomAD v4: 14-75005848-C-T
MyVariant Identifiers: chr14:g.75472551C>T (hg19) chr14:g.75005848C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005848C>T , CM000676.2:g.75005848C>T GRCh38
NC_000014.8:g.75472551C>T , CM000676.1:g.75472551C>T GRCh37
NC_000014.7:g.74542304C>T NCBI36
NG_013333.1:g.7940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.598-18C>T MANE Select ENSP00000266126.5:n.598-18C>T
ENST00000266126.9:c.598-18C>T ENSP00000266126.5:n.598-18C>T
ENST00000553401.5:c.578C>T ENSP00000451681.1:p.Pro193Leu
ENST00000556028.5:c.598-49C>T ENSP00000452311.1:n.598-49C>T
NM_014239.3:c.598-18C>T NP_055054.1:n.598-18C>T
NM_014239.4:c.598-18C>T MANE Select NP_055054.1:n.598-18C>T
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