Canonical Allele Identifier: CA2726539

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 764806
• ClinVar RCV Id: RCV000943169
• dbSNP Id: rs750115488
• ExAC: 3:183858199 C / T
• gnomAD v2: 3-183858199-C-T
• gnomAD v3: 3-184140411-C-T
• gnomAD v4: 3-184140411-C-T
• MyVariant Identifiers: chr3:g.183858199C>T (hg19) ; chr3:g.184140411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140411C>T , CM000665.2:g.184140411C>T	GRCh38
NC_000003.11:g.183858199C>T , CM000665.1:g.183858199C>T	GRCh37
NC_000003.10:g.185340893C>T	NCBI36
NG_015826.1:g.10390C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.867-7C>T
ENST00000468748.7:n.1080C>T
ENST00000484154.2:n.1387-1514C>T
ENST00000491008.6:n.1592-7C>T
ENST00000492226.2:n.1094C>T
ENST00000492773.6:c.598-7C>T
ENST00000647636.1:c.844-7C>T	ENSP00000497505.1:n.844-7C>T
ENST00000647909.1:c.868-7C>T	ENSP00000498164.1:n.868-7C>T
ENST00000648145.1:c.612-7C>T
ENST00000648189.1:c.658-7C>T
ENST00000648256.1:c.816-7C>T	ENSP00000497356.1:n.816-7C>T
ENST00000648314.1:c.908-7C>T	ENSP00000496920.1:n.908-7C>T
ENST00000648599.1:c.*127-7C>T	ENSP00000497159.1:n.*127-7C>T
ENST00000648630.1:c.838-7C>T	ENSP00000497887.1:n.838-7C>T
ENST00000648682.1:c.844-7C>T	ENSP00000498185.1:n.844-7C>T
ENST00000648882.1:c.*670-7C>T	ENSP00000497603.1:n.*670-7C>T
ENST00000648890.1:c.844-7C>T	ENSP00000497503.1:n.844-7C>T
ENST00000648915.2:c.844-7C>T MANE Select	ENSP00000497160.1:n.844-7C>T
ENST00000649545.1:c.577+254C>T
ENST00000649688.1:c.*127-7C>T	ENSP00000497097.1:n.*127-7C>T
ENST00000649814.1:n.893-7C>T
ENST00000650270.1:c.711-7C>T
ENST00000273783.7:c.844-7C>T	ENSP00000273783.3:n.844-7C>T
ENST00000432982.5:c.246-1826C>T
ENST00000444495.1:c.844-7C>T	ENSP00000409142.1:n.844-7C>T
ENST00000468748.5:n.550C>T
ENST00000479833.1:n.160-7C>T
ENST00000481054.5:n.938-7C>T
ENST00000491144.5:n.1348-7C>T
ENST00000493740.1:n.74-7C>T
NM_003907.2:c.844-7C>T	NP_003898.2:n.844-7C>T
XM_011513265.1:c.94-7C>T	XP_011511567.1:n.94-7C>T
XM_011513266.1:c.7-7C>T	XP_011511568.1:n.7-7C>T
XR_924208.1:n.1795-7C>T
NM_003907.3:c.844-7C>T MANE Select	NP_003898.2:n.844-7C>T
XM_011513266.3:c.7-7C>T	XP_011511568.1:n.7-7C>T
XR_001740352.2:n.1207-7C>T
XR_001740353.2:n.1207-7C>T
XR_924208.2:n.1207-7C>T