Canonical Allele Identifier: CA6860192
Gene: EIF2B1 HGNC NCBI

Linked Data

dbSNP Id: rs746822849
ExAC: 12:124114855 A / G
gnomAD v2: 12-124114855-A-G
gnomAD v4: 12-123630308-A-G
MyVariant Identifiers: chr12:g.124114855A>G (hg19) chr12:g.123630308A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630308A>G , CM000674.2:g.123630308A>G GRCh38
NC_000012.11:g.124114855A>G , CM000674.1:g.124114855A>G GRCh37
NC_000012.10:g.122680808A>G NCBI36
NG_015862.1:g.8469T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-23T>C MANE Select ENSP00000416250.2:n.253-23T>C
ENST00000424014.6:c.253-23T>C ENSP00000416250.2:n.253-23T>C
ENST00000452159.6:n.384-23T>C
ENST00000534960.5:c.300-23T>C
ENST00000537073.1:c.253-23T>C ENSP00000444183.1:n.253-23T>C
ENST00000539951.5:c.214-23T>C ENSP00000438060.1:n.214-23T>C
ENST00000543940.1:n.353-4T>C
NM_001414.3:c.253-23T>C NP_001405.1:n.253-23T>C
NM_001414.4:c.253-23T>C MANE Select NP_001405.1:n.253-23T>C
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