Canonical Allele Identifier: CA522559806
Gene: EIF2B3 HGNC NCBI

Linked Data

dbSNP Id: rs1286293634
gnomAD v2: 1-45443948-T-C
gnomAD v3: 1-44978276-T-C
gnomAD v4: 1-44978276-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44978276T>C , CM000663.2:g.44978276T>C GRCh38
NC_000001.10:g.45443948T>C , CM000663.1:g.45443948T>C GRCh37
NC_000001.9:g.45216535T>C NCBI36
NG_015864.1:g.13414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360403.7:c.294+39A>G MANE Select ENSP00000353575.2:n.294+39A>G
ENST00000360403.6:c.294+39A>G ENSP00000353575.2:n.294+39A>G
ENST00000372182.6:n.407+39A>G
ENST00000372183.7:c.294+39A>G ENSP00000361257.3:n.294+39A>G
ENST00000477953.5:n.397+39A>G
ENST00000480675.5:c.294+39A>G ENSP00000485842.1:n.294+39A>G
ENST00000487532.5:n.406+39A>G
ENST00000497010.1:n.406+39A>G
ENST00000620860.4:c.294+39A>G ENSP00000483996.1:n.294+39A>G
NM_001166588.2:c.294+39A>G NP_001160060.1:n.294+39A>G
NM_001261418.1:c.294+39A>G NP_001248347.1:n.294+39A>G
NM_020365.4:c.294+39A>G NP_065098.1:n.294+39A>G
XM_011542396.1:c.294+39A>G XP_011540698.1:n.294+39A>G
XM_017002745.2:c.294+39A>G XP_016858234.1:n.294+39A>G
XM_017002746.1:c.-161+39A>G XP_016858235.1:n.-161+39A>G
XM_017002747.1:c.-161+39A>G XP_016858236.1:n.-161+39A>G
NM_020365.5:c.294+39A>G MANE Select NP_065098.1:n.294+39A>G
NM_001166588.3:c.294+39A>G NP_001160060.1:n.294+39A>G
NM_001261418.2:c.294+39A>G NP_001248347.1:n.294+39A>G