Canonical Allele Identifier: CA355383056

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138223-C-A
• MyVariant Identifiers: chr3:g.183856011C>A (hg19) ; chr3:g.184138223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138223C>A , CM000665.2:g.184138223C>A	GRCh38
NC_000003.11:g.183856011C>A , CM000665.1:g.183856011C>A	GRCh37
NC_000003.10:g.185338705C>A	NCBI36
NG_015826.1:g.8202C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.765C>A
ENST00000468748.7:n.725C>A
ENST00000484154.2:n.1363C>A
ENST00000491008.6:n.1490C>A
ENST00000492226.2:n.739C>A
ENST00000492773.6:c.496C>A
ENST00000647636.1:c.742C>A	ENSP00000497505.1:p.His248Asn
ENST00000647909.1:c.766C>A	ENSP00000498164.1:p.His256Asn
ENST00000648145.1:c.510C>A
ENST00000648189.1:c.492C>A
ENST00000648256.1:c.691C>A	ENSP00000497356.1:p.His231Asn
ENST00000648314.1:c.742C>A	ENSP00000496920.1:p.His248Asn
ENST00000648599.1:c.742C>A	ENSP00000497159.1:p.His248Asn
ENST00000648630.1:c.736C>A	ENSP00000497887.1:p.His246Asn
ENST00000648682.1:c.742C>A	ENSP00000498185.1:p.His248Asn
ENST00000648882.1:c.*568C>A	ENSP00000497603.1:n.*568C>A
ENST00000648890.1:c.742C>A	ENSP00000497503.1:p.His248Asn
ENST00000648915.2:c.742C>A MANE Select	ENSP00000497160.1:p.His248Asn
ENST00000649545.1:c.476C>A
ENST00000649688.1:c.742C>A	ENSP00000497097.1:p.His248Asn
ENST00000649814.1:n.791C>A
ENST00000650270.1:c.609C>A
ENST00000273783.7:c.742C>A	ENSP00000273783.3:p.His248Asn
ENST00000432982.5:c.245+1548C>A
ENST00000444495.1:c.742C>A	ENSP00000409142.1:p.His248Asn
ENST00000468748.5:n.195C>A
ENST00000479833.1:n.58C>A
ENST00000481054.5:n.743C>A
ENST00000491008.5:n.706C>A
ENST00000491144.5:n.1182C>A
NM_003907.2:c.742C>A	NP_003898.2:p.His248Asn
XR_924208.1:n.1693C>A
NM_003907.3:c.742C>A MANE Select	NP_003898.2:p.His248Asn
XM_011513266.3:c.-160C>A	XP_011511568.1:n.-160C>A
XR_001740352.2:n.1105C>A
XR_001740353.2:n.1105C>A
XR_924208.2:n.1105C>A