Canonical Allele Identifier: CA903705806

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2805044
• ClinVar RCV Id: RCV003684424
• dbSNP Id: rs1208056308
• gnomAD v3: 3-184137880-C-T
• gnomAD v4: 3-184137880-C-T
• MyVariant Identifiers: chr3:g.183855668C>T (hg19) ; chr3:g.184137880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137880C>T , CM000665.2:g.184137880C>T	GRCh38
NC_000003.11:g.183855668C>T , CM000665.1:g.183855668C>T	GRCh37
NC_000003.10:g.185338362C>T	NCBI36
NG_015826.1:g.7859C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.530-18C>T
ENST00000468748.7:n.490-18C>T
ENST00000484154.2:n.1128-18C>T
ENST00000491008.6:n.1255-18C>T
ENST00000492226.2:n.504-18C>T
ENST00000492773.6:c.239-18C>T
ENST00000647636.1:c.507-18C>T	ENSP00000497505.1:n.507-18C>T
ENST00000647909.1:c.513C>T	ENSP00000498164.1:p.Val171=
ENST00000648145.1:c.275-18C>T
ENST00000648189.1:c.257-18C>T
ENST00000648256.1:c.456-18C>T	ENSP00000497356.1:n.456-18C>T
ENST00000648314.1:c.507-18C>T	ENSP00000496920.1:n.507-18C>T
ENST00000648599.1:c.507-18C>T	ENSP00000497159.1:n.507-18C>T
ENST00000648630.1:c.501-18C>T	ENSP00000497887.1:n.501-18C>T
ENST00000648682.1:c.507-18C>T	ENSP00000498185.1:n.507-18C>T
ENST00000648882.1:c.*333-18C>T	ENSP00000497603.1:n.*333-18C>T
ENST00000648890.1:c.507-18C>T	ENSP00000497503.1:n.507-18C>T
ENST00000648915.2:c.507-18C>T MANE Select	ENSP00000497160.1:n.507-18C>T
ENST00000649545.1:c.241-18C>T
ENST00000649688.1:c.507-18C>T	ENSP00000497097.1:n.507-18C>T
ENST00000649814.1:n.556-18C>T
ENST00000650244.1:c.652-18C>T	ENSP00000497227.1:n.652-18C>T
ENST00000650270.1:c.374-18C>T
ENST00000273783.7:c.507-18C>T	ENSP00000273783.3:n.507-18C>T
ENST00000432982.5:c.245+1205C>T
ENST00000444495.1:c.507-18C>T	ENSP00000409142.1:n.507-18C>T
ENST00000481054.5:n.508-18C>T
ENST00000491008.5:n.471-18C>T
ENST00000491144.5:n.929C>T
ENST00000498831.1:n.462-18C>T
NM_003907.2:c.507-18C>T	NP_003898.2:n.507-18C>T
XR_924208.1:n.1458-18C>T
NM_003907.3:c.507-18C>T MANE Select	NP_003898.2:n.507-18C>T
XM_011513266.3:c.-395-18C>T	XP_011511568.1:n.-395-18C>T
XR_001740352.2:n.870-18C>T
XR_001740353.2:n.870-18C>T
XR_924208.2:n.870-18C>T