Canonical Allele Identifier: CA2726461

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2993021
• ClinVar RCV Id: RCV003858132
• dbSNP Id: rs774156834
• ExAC: 3:183855968 C / T
• gnomAD v4: 3-184138180-C-T
• MyVariant Identifiers: chr3:g.183855968C>T (hg19) ; chr3:g.184138180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138180C>T , CM000665.2:g.184138180C>T	GRCh38
NC_000003.11:g.183855968C>T , CM000665.1:g.183855968C>T	GRCh37
NC_000003.10:g.185338662C>T	NCBI36
NG_015826.1:g.8159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.722C>T
ENST00000468748.7:n.682C>T
ENST00000484154.2:n.1320C>T
ENST00000491008.6:n.1447C>T
ENST00000492226.2:n.696C>T
ENST00000492773.6:c.453C>T
ENST00000647636.1:c.699C>T	ENSP00000497505.1:p.Gly233=
ENST00000647909.1:c.723C>T	ENSP00000498164.1:p.Gly241=
ENST00000648145.1:c.467C>T
ENST00000648189.1:c.449C>T
ENST00000648256.1:c.648C>T	ENSP00000497356.1:p.Gly216=
ENST00000648314.1:c.699C>T	ENSP00000496920.1:p.Gly233=
ENST00000648599.1:c.699C>T	ENSP00000497159.1:p.Gly233=
ENST00000648630.1:c.693C>T	ENSP00000497887.1:p.Gly231=
ENST00000648682.1:c.699C>T	ENSP00000498185.1:p.Gly233=
ENST00000648882.1:c.*525C>T	ENSP00000497603.1:n.*525C>T
ENST00000648890.1:c.699C>T	ENSP00000497503.1:p.Gly233=
ENST00000648915.2:c.699C>T MANE Select	ENSP00000497160.1:p.Gly233=
ENST00000649545.1:c.433C>T
ENST00000649688.1:c.699C>T	ENSP00000497097.1:p.Gly233=
ENST00000649814.1:n.748C>T
ENST00000650270.1:c.566C>T
ENST00000273783.7:c.699C>T	ENSP00000273783.3:p.Gly233=
ENST00000432982.5:c.245+1505C>T
ENST00000444495.1:c.699C>T	ENSP00000409142.1:p.Gly233=
ENST00000468748.5:n.152C>T
ENST00000479833.1:n.15C>T
ENST00000481054.5:n.700C>T
ENST00000491008.5:n.663C>T
ENST00000491144.5:n.1139C>T
NM_003907.2:c.699C>T	NP_003898.2:p.Gly233=
XR_924208.1:n.1650C>T
NM_003907.3:c.699C>T MANE Select	NP_003898.2:p.Gly233=
XM_011513266.3:c.-203C>T	XP_011511568.1:n.-203C>T
XR_001740352.2:n.1062C>T
XR_001740353.2:n.1062C>T
XR_924208.2:n.1062C>T