Canonical Allele Identifier: CA355393005

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184143455A>C , CM000665.2:g.184143455A>C	GRCh38
NC_000003.11:g.183861243A>C , CM000665.1:g.183861243A>C	GRCh37
NC_000003.10:g.185343937A>C	NCBI36
NG_015826.1:g.13434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.2081A>C
ENST00000468748.7:n.2301A>C
ENST00000484154.2:n.2288A>C
ENST00000491008.6:n.2523A>C
ENST00000492226.2:n.2325A>C
ENST00000492773.6:c.1513A>C
ENST00000647636.1:c.*608A>C	ENSP00000497505.1:n.*608A>C
ENST00000647909.1:c.1783A>C	ENSP00000498164.1:p.Ile595Leu
ENST00000648145.1:c.1531A>C
ENST00000648189.1:c.1593A>C
ENST00000648256.1:c.1731A>C	ENSP00000497356.1:n.1731A>C
ENST00000648314.1:c.*1177A>C	ENSP00000496920.1:n.*1177A>C
ENST00000648599.1:c.*1042A>C	ENSP00000497159.1:n.*1042A>C
ENST00000648630.1:c.1937A>C	ENSP00000497887.1:n.1937A>C
ENST00000648682.1:c.*898A>C	ENSP00000498185.1:n.*898A>C
ENST00000648882.1:c.*1585A>C	ENSP00000497603.1:n.*1585A>C
ENST00000648890.1:c.*182A>C	ENSP00000497503.1:n.*182A>C
ENST00000648915.2:c.1759A>C MANE Select	ENSP00000497160.1:p.Ile587Leu
ENST00000649545.1:c.1418A>C
ENST00000649688.1:c.*1351A>C	ENSP00000497097.1:n.*1351A>C
ENST00000649814.1:n.1824A>C
ENST00000650270.1:c.1637A>C
ENST00000273783.7:c.1759A>C	ENSP00000273783.3:p.Ile587Leu
ENST00000444495.1:c.1759A>C	ENSP00000409142.1:p.Ile587Leu
ENST00000465218.2:n.541A>C
ENST00000481054.5:n.2152A>C
ENST00000484154.1:n.195A>C
ENST00000491144.5:n.2263A>C
NM_003907.2:c.1759A>C	NP_003898.2:p.Ile587Leu
XM_011513265.1:c.1009A>C	XP_011511567.1:p.Ile337Leu
XM_011513266.1:c.922A>C	XP_011511568.1:p.Ile308Leu
XR_924208.1:n.2726A>C
NM_003907.3:c.1759A>C MANE Select	NP_003898.2:p.Ile587Leu
XM_011513266.3:c.922A>C	XP_011511568.1:p.Ile308Leu
XR_001740352.2:n.2133A>C
XR_001740353.2:n.2149A>C
XR_924208.2:n.2138A>C