Canonical Allele Identifier: CA247594
Gene: EIF2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198774
ClinVar RCV Id: RCV000180219
dbSNP Id: rs776489281
ExAC: 12:124107201 G / A
gnomAD v2: 12-124107201-G-A
gnomAD v3: 12-123622654-G-A
gnomAD v4: 12-123622654-G-A
MyVariant Identifiers: chr12:g.124107201G>A (hg19) chr12:g.123622654G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123622654G>A , CM000674.2:g.123622654G>A GRCh38
NC_000012.11:g.124107201G>A , CM000674.1:g.124107201G>A GRCh37
NC_000012.10:g.122673154G>A NCBI36
NG_015862.1:g.16123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424014.7:c.735C>T MANE Select ENSP00000416250.2:p.Asp245=
ENST00000424014.6:c.735C>T ENSP00000416250.2:p.Asp245=
ENST00000534960.5:c.600C>T
ENST00000539951.5:c.*11C>T ENSP00000438060.1:n.*11C>T
NM_001414.3:c.735C>T NP_001405.1:p.Asp245=
NM_001414.4:c.735C>T MANE Select NP_001405.1:p.Asp245=
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