Canonical Allele Identifier: CA10632190
Gene: EIF2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307527
ClinVar RCV Id: RCV000334661
dbSNP Id: rs11057309
gnomAD v2: 12-124106107-T-A
gnomAD v3: 12-123621560-T-A
gnomAD v4: 12-123621560-T-A
MyVariant Identifiers: chr12:g.124106107T>A (hg19) chr12:g.123621560T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123621560T>A , CM000674.2:g.123621560T>A GRCh38
NC_000012.11:g.124106107T>A , CM000674.1:g.124106107T>A GRCh37
NC_000012.10:g.122672060T>A NCBI36
NG_015862.1:g.17217A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424014.7:c.*196A>T MANE Select ENSP00000416250.2:n.*196A>T
ENST00000424014.6:c.*196A>T ENSP00000416250.2:n.*196A>T
NM_001414.3:c.*196A>T NP_001405.1:n.*196A>T
NM_001414.4:c.*196A>T MANE Select NP_001405.1:n.*196A>T
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