Canonical Allele Identifier: CA2068931477
Gene: EIF2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955178597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630336G>C , CM000674.2:g.123630336G>C GRCh38
NC_000012.11:g.124114883G>C , CM000674.1:g.124114883G>C GRCh37
NC_000012.10:g.122680836G>C NCBI36
NG_015862.1:g.8441C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-51C>G MANE Select ENSP00000416250.2:n.253-51C>G
ENST00000424014.6:c.253-51C>G ENSP00000416250.2:n.253-51C>G
ENST00000452159.6:n.384-51C>G
ENST00000534960.5:c.300-51C>G
ENST00000537073.1:c.253-51C>G ENSP00000444183.1:n.253-51C>G
ENST00000539951.5:c.214-51C>G ENSP00000438060.1:n.214-51C>G
ENST00000543940.1:n.353-32C>G
NM_001414.3:c.253-51C>G NP_001405.1:n.253-51C>G
NM_001414.4:c.253-51C>G MANE Select NP_001405.1:n.253-51C>G
Search 100 bp 5'
Search 100 bp 3'