Canonical Allele Identifier: CA355393997

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144113G>C , CM000665.2:g.184144113G>C	GRCh38
NC_000003.11:g.183861901G>C , CM000665.1:g.183861901G>C	GRCh37
NC_000003.10:g.185344595G>C	NCBI36
NG_015826.1:g.14092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.2206G>C
ENST00000468748.7:n.2959G>C
ENST00000484154.2:n.2946G>C
ENST00000491008.6:n.2648G>C
ENST00000492226.2:n.2983G>C
ENST00000492773.6:c.1638G>C
ENST00000647636.1:c.*733G>C	ENSP00000497505.1:n.*733G>C
ENST00000647909.1:c.1908G>C	ENSP00000498164.1:p.Trp636Cys
ENST00000648145.1:c.1676G>C
ENST00000648189.1:c.1718G>C
ENST00000648256.1:c.1856G>C	ENSP00000497356.1:n.1856G>C
ENST00000648314.1:c.*1288-15G>C	ENSP00000496920.1:n.*1288-15G>C
ENST00000648599.1:c.*1167G>C	ENSP00000497159.1:n.*1167G>C
ENST00000648630.1:c.2062G>C	ENSP00000497887.1:n.2062G>C
ENST00000648682.1:c.*1023G>C	ENSP00000498185.1:n.*1023G>C
ENST00000648882.1:c.*1710G>C	ENSP00000497603.1:n.*1710G>C
ENST00000648890.1:c.*307G>C	ENSP00000497503.1:n.*307G>C
ENST00000648915.2:c.1884G>C MANE Select	ENSP00000497160.1:p.Trp628Cys
ENST00000649545.1:c.1543G>C
ENST00000649688.1:c.*1476G>C	ENSP00000497097.1:n.*1476G>C
ENST00000649814.1:n.2482G>C
ENST00000650270.1:c.1762G>C
ENST00000273783.7:c.1884G>C	ENSP00000273783.3:p.Trp628Cys
ENST00000444495.1:c.1884G>C	ENSP00000409142.1:p.Trp628Cys
ENST00000465218.2:n.666G>C
ENST00000481054.5:n.2810G>C
ENST00000491144.5:n.2388G>C
ENST00000492226.1:n.60G>C
NM_003907.2:c.1884G>C	NP_003898.2:p.Trp628Cys
XM_011513265.1:c.1134G>C	XP_011511567.1:p.Trp378Cys
XM_011513266.1:c.1047G>C	XP_011511568.1:p.Trp349Cys
XR_924208.1:n.2851G>C
NM_003907.3:c.1884G>C MANE Select	NP_003898.2:p.Trp628Cys
XM_011513266.3:c.1047G>C	XP_011511568.1:p.Trp349Cys
XR_001740352.2:n.2258G>C
XR_001740353.2:n.2274G>C
XR_924208.2:n.2263G>C