Canonical Allele Identifier: CA6860195
Gene: EIF2B1 HGNC NCBI

Linked Data

dbSNP Id: rs368227950
ExAC: 12:124114894 T / C
gnomAD v2: 12-124114894-T-C
gnomAD v3: 12-123630347-T-C
gnomAD v4: 12-123630347-T-C
MyVariant Identifiers: chr12:g.124114894T>C (hg19) chr12:g.123630347T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630347T>C , CM000674.2:g.123630347T>C GRCh38
NC_000012.11:g.124114894T>C , CM000674.1:g.124114894T>C GRCh37
NC_000012.10:g.122680847T>C NCBI36
NG_015862.1:g.8430A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.252+50A>G MANE Select ENSP00000416250.2:n.252+50A>G
ENST00000424014.6:c.252+50A>G ENSP00000416250.2:n.252+50A>G
ENST00000452159.6:n.383+50A>G
ENST00000534960.5:c.299+50A>G
ENST00000537073.1:c.252+50A>G ENSP00000444183.1:n.252+50A>G
ENST00000539951.5:c.213+50A>G ENSP00000438060.1:n.213+50A>G
ENST00000543940.1:n.353-43A>G
NM_001414.3:c.252+50A>G NP_001405.1:n.252+50A>G
NM_001414.4:c.252+50A>G MANE Select NP_001405.1:n.252+50A>G
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