Canonical Allele Identifier: CA2068931439
Gene: EIF2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955178353
gnomAD v4: 12-123630293-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123630297dup , CM000674.2:g.123630297dup GRCh38
NC_000012.11:g.124114844dup , CM000674.1:g.124114844dup GRCh37
NC_000012.10:g.122680797dup NCBI36
NG_015862.1:g.8483dup

Transcript Alleles

HGVS Amino-acid change
ENST00000424014.7:c.253-9dup MANE Select ENSP00000416250.2:n.253-9dup
ENST00000424014.6:c.253-9dup ENSP00000416250.2:n.253-9dup
ENST00000452159.6:n.384-9dup
ENST00000534960.5:c.300-9dup
ENST00000537073.1:c.253-9dup ENSP00000444183.1:n.253-9dup
ENST00000539951.5:c.214-9dup ENSP00000438060.1:n.214-9dup
ENST00000543940.1:n.363dup
NM_001414.3:c.253-9dup NP_001405.1:n.253-9dup
NM_001414.4:c.253-9dup MANE Select NP_001405.1:n.253-9dup
Search 100 bp 5'
Search 100 bp 3'