Canonical Allele Identifier: CA355382906

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138187-G-A
• COSMIC: COSM446072
• MyVariant Identifiers: chr3:g.183855975G>A (hg19) ; chr3:g.184138187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138187G>A , CM000665.2:g.184138187G>A	GRCh38
NC_000003.11:g.183855975G>A , CM000665.1:g.183855975G>A	GRCh37
NC_000003.10:g.185338669G>A	NCBI36
NG_015826.1:g.8166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.729G>A
ENST00000468748.7:n.689G>A
ENST00000484154.2:n.1327G>A
ENST00000491008.6:n.1454G>A
ENST00000492226.2:n.703G>A
ENST00000492773.6:c.460G>A
ENST00000647636.1:c.706G>A	ENSP00000497505.1:p.Asp236Asn
ENST00000647909.1:c.730G>A	ENSP00000498164.1:p.Asp244Asn
ENST00000648145.1:c.474G>A
ENST00000648189.1:c.456G>A
ENST00000648256.1:c.655G>A	ENSP00000497356.1:p.Asp219Asn
ENST00000648314.1:c.706G>A	ENSP00000496920.1:p.Asp236Asn
ENST00000648599.1:c.706G>A	ENSP00000497159.1:p.Asp236Asn
ENST00000648630.1:c.700G>A	ENSP00000497887.1:p.Asp234Asn
ENST00000648682.1:c.706G>A	ENSP00000498185.1:p.Asp236Asn
ENST00000648882.1:c.*532G>A	ENSP00000497603.1:n.*532G>A
ENST00000648890.1:c.706G>A	ENSP00000497503.1:p.Asp236Asn
ENST00000648915.2:c.706G>A MANE Select	ENSP00000497160.1:p.Asp236Asn
ENST00000649545.1:c.440G>A
ENST00000649688.1:c.706G>A	ENSP00000497097.1:p.Asp236Asn
ENST00000649814.1:n.755G>A
ENST00000650270.1:c.573G>A
ENST00000273783.7:c.706G>A	ENSP00000273783.3:p.Asp236Asn
ENST00000432982.5:c.245+1512G>A
ENST00000444495.1:c.706G>A	ENSP00000409142.1:p.Asp236Asn
ENST00000468748.5:n.159G>A
ENST00000479833.1:n.22G>A
ENST00000481054.5:n.707G>A
ENST00000491008.5:n.670G>A
ENST00000491144.5:n.1146G>A
NM_003907.2:c.706G>A	NP_003898.2:p.Asp236Asn
XR_924208.1:n.1657G>A
NM_003907.3:c.706G>A MANE Select	NP_003898.2:p.Asp236Asn
XM_011513266.3:c.-196G>A	XP_011511568.1:n.-196G>A
XR_001740352.2:n.1069G>A
XR_001740353.2:n.1069G>A
XR_924208.2:n.1069G>A