Canonical Allele Identifier: CA2573136807

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1397252
• ClinVar RCV Id: RCV001891661
• dbSNP Id: rs2109007324

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138183dup , CM000665.2:g.184138183dup	GRCh38
NC_000003.11:g.183855971dup , CM000665.1:g.183855971dup	GRCh37
NC_000003.10:g.185338665dup	NCBI36
NG_015826.1:g.8162dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.725dup
ENST00000468748.7:n.685dup
ENST00000484154.2:n.1323dup
ENST00000491008.6:n.1450dup
ENST00000492226.2:n.699dup
ENST00000492773.6:c.456dup
ENST00000647636.1:c.702dup	ENSP00000497505.1:p.Ser235Ter
ENST00000647909.1:c.726dup	ENSP00000498164.1:p.Ser243Ter
ENST00000648145.1:c.470dup
ENST00000648189.1:c.452dup
ENST00000648256.1:c.651dup	ENSP00000497356.1:p.Ser218Ter
ENST00000648314.1:c.702dup	ENSP00000496920.1:p.Ser235Ter
ENST00000648599.1:c.702dup	ENSP00000497159.1:p.Ser235Ter
ENST00000648630.1:c.696dup	ENSP00000497887.1:p.Ser233Ter
ENST00000648682.1:c.702dup	ENSP00000498185.1:p.Ser235Ter
ENST00000648882.1:c.*528dup	ENSP00000497603.1:n.*528dup
ENST00000648890.1:c.702dup	ENSP00000497503.1:p.Ser235Ter
ENST00000648915.2:c.702dup MANE Select	ENSP00000497160.1:p.Ser235Ter
ENST00000649545.1:c.436dup
ENST00000649688.1:c.702dup	ENSP00000497097.1:p.Ser235Ter
ENST00000649814.1:n.751dup
ENST00000650270.1:c.569dup
ENST00000273783.7:c.702dup	ENSP00000273783.3:p.Ser235Ter
ENST00000432982.5:c.245+1508dup
ENST00000444495.1:c.702dup	ENSP00000409142.1:p.Ser235Ter
ENST00000468748.5:n.155dup
ENST00000479833.1:n.18dup
ENST00000481054.5:n.703dup
ENST00000491008.5:n.666dup
ENST00000491144.5:n.1142dup
NM_003907.2:c.702dup	NP_003898.2:p.Ser235Ter
XR_924208.1:n.1653dup
NM_003907.3:c.702dup MANE Select	NP_003898.2:p.Ser235Ter
XM_011513266.3:c.-200dup	XP_011511568.1:n.-200dup
XR_001740352.2:n.1065dup
XR_001740353.2:n.1065dup
XR_924208.2:n.1065dup