Canonical Allele Identifier: CA6859935
Gene: EIF2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307528
ClinVar RCV Id: RCV000313935
dbSNP Id: rs753984869
ExAC: 12:124106353 C / T
gnomAD v2: 12-124106353-C-T
gnomAD v3: 12-123621806-C-T
gnomAD v4: 12-123621806-C-T
COSMIC: COSM1706417
MyVariant Identifiers: chr12:g.124106353C>T (hg19) chr12:g.123621806C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123621806C>T , CM000674.2:g.123621806C>T GRCh38
NC_000012.11:g.124106353C>T , CM000674.1:g.124106353C>T GRCh37
NC_000012.10:g.122672306C>T NCBI36
NG_015862.1:g.16971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424014.7:c.868G>A MANE Select ENSP00000416250.2:p.Val290Met
ENST00000424014.6:c.868G>A ENSP00000416250.2:p.Val290Met
ENST00000539951.5:c.*144G>A ENSP00000438060.1:n.*144G>A
NM_001414.3:c.868G>A NP_001405.1:p.Val290Met
NM_001414.4:c.868G>A MANE Select NP_001405.1:p.Val290Met
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Search 100 bp 3'