Canonical Allele Identifier: CA340475

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 5944
• ClinVar RCV Id: RCV003221410
• dbSNP Id: rs113994074
• gnomAD v4: 3-184141925-G-T
• MyVariant Identifiers: chr3:g.183859713G>T (hg19) ; chr3:g.184141925G>T (hg38)
• PubMed: PMID:11704758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141925G>T , CM000665.2:g.184141925G>T	GRCh38
NC_000003.11:g.183859713G>T , CM000665.1:g.183859713G>T	GRCh37
NC_000003.10:g.185342407G>T	NCBI36
NG_015826.1:g.11904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180G>T
ENST00000468748.7:n.1400G>T
ENST00000484154.2:n.1387G>T
ENST00000491008.6:n.1905G>T
ENST00000492226.2:n.1424G>T
ENST00000492773.6:c.911G>T
ENST00000647636.1:c.*6G>T	ENSP00000497505.1:n.*6G>T
ENST00000647909.1:c.1181G>T	ENSP00000498164.1:p.Gly394Val
ENST00000648145.1:c.929G>T
ENST00000648189.1:c.975G>T
ENST00000648256.1:c.1129G>T	ENSP00000497356.1:n.1129G>T
ENST00000648314.1:c.*276G>T	ENSP00000496920.1:n.*276G>T
ENST00000648599.1:c.*440G>T	ENSP00000497159.1:n.*440G>T
ENST00000648630.1:c.1036G>T	ENSP00000497887.1:p.Val346Leu
ENST00000648682.1:c.1167G>T	ENSP00000498185.1:p.Arg389Ser
ENST00000648882.1:c.*983G>T	ENSP00000497603.1:n.*983G>T
ENST00000648890.1:c.1157G>T	ENSP00000497503.1:p.Gly386Val
ENST00000648915.2:c.1157G>T MANE Select	ENSP00000497160.1:p.Gly386Val
ENST00000649545.1:c.578G>T
ENST00000649688.1:c.*450G>T	ENSP00000497097.1:n.*450G>T
ENST00000649814.1:n.1206G>T
ENST00000650270.1:c.1024G>T
ENST00000273783.7:c.1157G>T	ENSP00000273783.3:p.Gly386Val
ENST00000432982.5:c.246-312G>T
ENST00000444495.1:c.1157G>T	ENSP00000409142.1:p.Gly386Val
ENST00000479833.1:n.358G>T
ENST00000481054.5:n.1251G>T
ENST00000491144.5:n.1661G>T
ENST00000492773.5:n.40G>T
NM_003907.2:c.1157G>T	NP_003898.2:p.Gly386Val
XM_011513265.1:c.407G>T	XP_011511567.1:p.Gly136Val
XM_011513266.1:c.320G>T	XP_011511568.1:p.Gly107Val
XR_924208.1:n.2108G>T
NM_003907.3:c.1157G>T MANE Select	NP_003898.2:p.Gly386Val
XM_011513266.3:c.320G>T	XP_011511568.1:p.Gly107Val
XR_001740352.2:n.1520G>T
XR_001740353.2:n.1520G>T
XR_924208.2:n.1520G>T